Canonical Allele Identifier: CA316191
Gene: NRXN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 206272
ClinVar RCV Id: RCV000188305
dbSNP Id: rs796052787
MyVariant Identifiers: chr2:g.50723225del (hg19) chr2:g.50496087del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.50496087del , CM000664.2:g.50496087del GRCh38
NC_000002.11:g.50723225del , CM000664.1:g.50723225del GRCh37
NC_000002.10:g.50576729del NCBI36
NG_011878.1:g.541450del

Transcript Alleles

HGVS Amino-acid change
ENST00000401669.7:c.2888del MANE Select ENSP00000385017.2:p.His963LeufsTer29
ENST00000462791.2:n.864del
ENST00000636298.1:n.1787del
ENST00000637889.1:n.55del
ENST00000331040.9:c.2042del ENSP00000489573.1:p.His681LeufsTer29
ENST00000401669.6:c.2888del ENSP00000385017.2:p.His963LeufsTer29
ENST00000402717.6:c.2033del ENSP00000385434.4:p.His678LeufsTer29
ENST00000404971.5:c.3008del ENSP00000385142.1:p.His1003LeufsTer29
ENST00000405472.7:c.2852del ENSP00000434015.2:p.His951LeufsTer29
ENST00000406316.6:c.2888del ENSP00000384311.2:p.His963LeufsTer29
ENST00000406859.7:c.2078del ENSP00000385681.4:p.His693LeufsTer29
ENST00000625672.2:c.2864del ENSP00000485887.1:p.His955LeufsTer29
ENST00000630543.2:c.2864del ENSP00000486879.1:p.His955LeufsTer29
NM_001135659.1:c.3008del NP_001129131.1:p.His1003LeufsTer29
NM_004801.4:c.2888del NP_004792.1:p.His963LeufsTer29
XM_005264642.2:c.2909del XP_005264699.1:p.His970LeufsTer29
XM_005264643.2:c.2864del XP_005264700.1:p.His955LeufsTer29
XM_006712137.2:c.2909del XP_006712200.1:p.His970LeufsTer29
XM_006712140.2:c.2909del XP_006712203.1:p.His970LeufsTer29
XM_006712141.2:c.2909del XP_006712204.1:p.His970LeufsTer29
XM_011533167.1:c.2909del XP_011531469.1:p.His970LeufsTer29
XM_011533168.1:c.2906del XP_011531470.1:p.His969LeufsTer29
XM_011533169.1:c.2897del XP_011531471.1:p.His966LeufsTer29
XM_011533170.1:c.2891del XP_011531472.1:p.His964LeufsTer29
XM_011533171.1:c.2888del XP_011531473.1:p.His963LeufsTer29
XM_011533172.1:c.2882del XP_011531474.1:p.His961LeufsTer29
XM_011533173.1:c.2879del XP_011531475.1:p.His960LeufsTer29
XM_011533174.1:c.2864del XP_011531476.1:p.His955LeufsTer29
XM_011533175.1:c.2852del XP_011531477.1:p.His951LeufsTer29
XM_011533176.1:c.2849del XP_011531478.1:p.His950LeufsTer29
XM_011533177.1:c.2909del XP_011531479.1:p.His970LeufsTer29
XM_011533178.1:c.2819del XP_011531480.1:p.His940LeufsTer29
XM_011533179.1:c.2864del XP_011531481.1:p.His955LeufsTer29
XM_011533180.1:c.2909del XP_011531482.1:p.His970LeufsTer29
XM_011533181.1:c.2114del XP_011531483.1:p.His705LeufsTer29
XM_011533182.1:c.2069del XP_011531484.1:p.His690LeufsTer29
XM_011533183.1:c.2042del XP_011531485.1:p.His681LeufsTer29
XM_011533184.1:c.1949del XP_011531486.1:p.His650LeufsTer29
NM_001135659.2:c.3008del NP_001129131.1:p.His1003LeufsTer29
NM_001330077.1:c.2864del NP_001317006.1:p.His955LeufsTer29
NM_001330078.1:c.2888del NP_001317007.1:p.His963LeufsTer29
NM_001330082.1:c.2864del NP_001317011.1:p.His955LeufsTer29
NM_001330083.1:c.2822del NP_001317012.1:p.His941LeufsTer29
NM_001330084.1:c.2822del NP_001317013.1:p.His941LeufsTer29
NM_001330085.1:c.2861del NP_001317014.1:p.His954LeufsTer29
NM_001330086.1:c.2888del NP_001317015.1:p.His963LeufsTer29
NM_001330087.1:c.2777del NP_001317016.1:p.His926LeufsTer29
NM_001330088.1:c.2807del NP_001317017.1:p.His936LeufsTer29
NM_001330093.1:c.2885del NP_001317022.1:p.His962LeufsTer29
NM_001330094.1:c.2876del NP_001317023.1:p.His959LeufsTer29
NM_001330095.1:c.2837del NP_001317024.1:p.His946LeufsTer29
NM_001330096.1:c.2777del NP_001317025.1:p.His926LeufsTer29
NM_004801.5:c.2888del NP_004792.1:p.His963LeufsTer29
XM_005264642.4:c.2909del XP_005264699.1:p.His970LeufsTer29
XM_006712137.4:c.2909del XP_006712200.1:p.His970LeufsTer29
XM_006712140.4:c.2909del XP_006712203.2:p.His970LeufsTer29
XM_011533167.3:c.2909del XP_011531469.1:p.His970LeufsTer29
XM_011533172.3:c.2882del XP_011531474.1:p.His961LeufsTer29
XM_011533175.3:c.2852del XP_011531477.1:p.His951LeufsTer29
XM_011533177.3:c.2909del XP_011531479.1:p.His970LeufsTer29
XM_011533178.3:c.2819del XP_011531480.1:p.His940LeufsTer29
XM_011533180.3:c.2909del XP_011531482.1:p.His970LeufsTer29
XM_011533183.2:c.2042del XP_011531485.1:p.His681LeufsTer29
XM_017005303.2:c.2909del XP_016860792.1:p.His970LeufsTer29
XM_017005304.2:c.2906del XP_016860793.1:p.His969LeufsTer29
XM_017005305.2:c.2909del XP_016860794.1:p.His970LeufsTer29
XM_017005306.2:c.2897del XP_016860795.1:p.His966LeufsTer29
XM_017005307.2:c.2891del XP_016860796.1:p.His964LeufsTer29
XM_017005308.2:c.2888del XP_016860797.1:p.His963LeufsTer29
XM_017005309.2:c.2882del XP_016860798.1:p.His961LeufsTer29
XM_017005310.2:c.2879del XP_016860799.1:p.His960LeufsTer29
XM_017005311.2:c.2864del XP_016860800.1:p.His955LeufsTer29
XM_017005314.2:c.2849del XP_016860803.1:p.His950LeufsTer29
XM_017005315.2:c.2882del XP_016860804.1:p.His961LeufsTer29
XM_017005316.2:c.2846del XP_016860805.1:p.His949LeufsTer29
XM_017005318.2:c.2837del XP_016860807.1:p.His946LeufsTer29
XM_017005320.2:c.2861del XP_016860809.1:p.His954LeufsTer29
XM_017005321.2:c.2909del XP_016860810.1:p.His970LeufsTer29
XM_017005322.2:c.2909del XP_016860811.1:p.His970LeufsTer29
XM_017005324.2:c.2882del XP_016860813.1:p.His961LeufsTer29
XM_017005325.2:c.2882del XP_016860814.1:p.His961LeufsTer29
XM_017005326.2:c.2870del XP_016860815.1:p.His957LeufsTer29
XM_017005327.2:c.2864del XP_016860816.1:p.His955LeufsTer29
XM_017005329.2:c.2909del XP_016860818.1:p.His970LeufsTer29
XM_017005334.2:c.1949del XP_016860823.1:p.His650LeufsTer29
NM_001330078.2:c.2888del MANE Select NP_001317007.1:p.His963LeufsTer29
NM_001135659.3:c.3008del NP_001129131.1:p.His1003LeufsTer29
NM_001330077.2:c.2864del NP_001317006.1:p.His955LeufsTer29
NM_001330082.2:c.2864del NP_001317011.1:p.His955LeufsTer29
NM_001330083.2:c.2822del NP_001317012.1:p.His941LeufsTer29
NM_001330084.2:c.2822del NP_001317013.1:p.His941LeufsTer29
NM_001330085.2:c.2861del NP_001317014.1:p.His954LeufsTer29
NM_001330086.2:c.2888del NP_001317015.1:p.His963LeufsTer29
NM_001330087.2:c.2777del NP_001317016.1:p.His926LeufsTer29
NM_001330088.2:c.2807del NP_001317017.1:p.His936LeufsTer29
NM_001330093.2:c.2885del NP_001317022.1:p.His962LeufsTer29
NM_001330094.2:c.2876del NP_001317023.1:p.His959LeufsTer29
NM_001330095.2:c.2837del NP_001317024.1:p.His946LeufsTer29
NM_001330096.2:c.2777del NP_001317025.1:p.His926LeufsTer29
NM_004801.6:c.2888del NP_004792.1:p.His963LeufsTer29
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