Canonical Allele Identifier: CA10613613

Gene: NRXN1

Linked Data

• ClinVar Variation Id: 336501
• ClinVar RCV Id: RCV000320127
• dbSNP Id: rs556394274
• gnomAD v2: 2-50146406-T-TCTAA
• gnomAD v3: 2-49919268-T-TCTAA
• gnomAD v4: 2-49919268-T-TCTAA
• MyVariant Identifiers: chr2:g.50146407_50146410dupCTAA (hg19) ; chr2:g.50146406_50146407insCTAA (hg19) ; chr2:g.49919269_49919272dupCTAA (hg38) ; chr2:g.49919268_49919269insCTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49919271_49919274dup , CM000664.2:g.49919271_49919274dup	GRCh38
NC_000002.11:g.50146409_50146412dup , CM000664.1:g.50146409_50146412dup	GRCh37
NC_000002.10:g.49999913_49999916dup	NCBI36
NG_011878.1:g.1118265_1118268dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.*2672_*2675dup MANE Select	ENSP00000385017.2:n.*2672_*2675dup
ENST00000636345.1:c.*2672_*2675dup	ENSP00000489745.1:n.*2672_*2675dup
ENST00000406316.6:c.*2672_*2675dup	ENSP00000384311.2:n.*2672_*2675dup
ENST00000625672.2:c.*2672_*2675dup	ENSP00000485887.1:n.*2672_*2675dup
ENST00000634431.1:n.3322_3325dup
ENST00000634764.1:n.3301_3304dup
ENST00000635519.1:c.*3006_*3009dup	ENSP00000489258.1:n.*3006_*3009dup
NM_001135659.1:c.*2672_*2675dup	NP_001129131.1:n.*2672_*2675dup
NM_004801.4:c.*2672_*2675dup	NP_004792.1:n.*2672_*2675dup
NM_138735.2:c.*2672_*2675dup	NP_620072.1:n.*2672_*2675dup
XM_005264642.2:c.*2672_*2675dup	XP_005264699.1:n.*2672_*2675dup
XM_005264643.2:c.*2672_*2675dup	XP_005264700.1:n.*2672_*2675dup
XM_006712137.2:c.*2672_*2675dup	XP_006712200.1:n.*2672_*2675dup
XM_011533167.1:c.*2672_*2675dup	XP_011531469.1:n.*2672_*2675dup
XM_011533168.1:c.*2672_*2675dup	XP_011531470.1:n.*2672_*2675dup
XM_011533169.1:c.*2672_*2675dup	XP_011531471.1:n.*2672_*2675dup
XM_011533170.1:c.*2672_*2675dup	XP_011531472.1:n.*2672_*2675dup
XM_011533171.1:c.*2672_*2675dup	XP_011531473.1:n.*2672_*2675dup
XM_011533172.1:c.*2672_*2675dup	XP_011531474.1:n.*2672_*2675dup
XM_011533173.1:c.*2672_*2675dup	XP_011531475.1:n.*2672_*2675dup
XM_011533174.1:c.*2672_*2675dup	XP_011531476.1:n.*2672_*2675dup
XM_011533175.1:c.*2672_*2675dup	XP_011531477.1:n.*2672_*2675dup
XM_011533176.1:c.*2672_*2675dup	XP_011531478.1:n.*2672_*2675dup
XM_011533177.1:c.*2672_*2675dup	XP_011531479.1:n.*2672_*2675dup
XM_011533178.1:c.*2672_*2675dup	XP_011531480.1:n.*2672_*2675dup
XM_011533179.1:c.*2672_*2675dup	XP_011531481.1:n.*2672_*2675dup
XM_011533181.1:c.*2672_*2675dup	XP_011531483.1:n.*2672_*2675dup
XM_011533182.1:c.*2672_*2675dup	XP_011531484.1:n.*2672_*2675dup
XM_011533183.1:c.*2672_*2675dup	XP_011531485.1:n.*2672_*2675dup
XM_011533184.1:c.*2672_*2675dup	XP_011531486.1:n.*2672_*2675dup
NM_001135659.2:c.*2672_*2675dup	NP_001129131.1:n.*2672_*2675dup
NM_001320156.3:c.*2672_*2675dup	NP_001307085.1:n.*2672_*2675dup
NM_001320157.3:c.*2672_*2675dup	NP_001307086.1:n.*2672_*2675dup
NM_001330077.1:c.*2672_*2675dup	NP_001317006.1:n.*2672_*2675dup
NM_001330078.1:c.*2672_*2675dup	NP_001317007.1:n.*2672_*2675dup
NM_001330082.1:c.*2672_*2675dup	NP_001317011.1:n.*2672_*2675dup
NM_001330083.1:c.*2672_*2675dup	NP_001317012.1:n.*2672_*2675dup
NM_001330084.1:c.*2672_*2675dup	NP_001317013.1:n.*2672_*2675dup
NM_001330085.1:c.*2672_*2675dup	NP_001317014.1:n.*2672_*2675dup
NM_001330086.1:c.*2672_*2675dup	NP_001317015.1:n.*2672_*2675dup
NM_001330087.1:c.*2672_*2675dup	NP_001317016.1:n.*2672_*2675dup
NM_001330088.1:c.*2672_*2675dup	NP_001317017.1:n.*2672_*2675dup
NM_001330091.1:c.*2672_*2675dup	NP_001317020.1:n.*2672_*2675dup
NM_001330092.1:c.*2672_*2675dup	NP_001317021.1:n.*2672_*2675dup
NM_001330093.1:c.*2672_*2675dup	NP_001317022.1:n.*2672_*2675dup
NM_001330094.1:c.*2672_*2675dup	NP_001317023.1:n.*2672_*2675dup
NM_001330095.1:c.*2672_*2675dup	NP_001317024.1:n.*2672_*2675dup
NM_001330096.1:c.*2672_*2675dup	NP_001317025.1:n.*2672_*2675dup
NM_001330097.1:c.*2672_*2675dup	NP_001317026.1:n.*2672_*2675dup
NM_004801.5:c.*2672_*2675dup	NP_004792.1:n.*2672_*2675dup
NM_138735.4:c.*2672_*2675dup	NP_620072.1:n.*2672_*2675dup
XM_006712137.4:c.*2672_*2675dup	XP_006712200.1:n.*2672_*2675dup
XM_017005303.2:c.*2672_*2675dup	XP_016860792.1:n.*2672_*2675dup
XM_017005322.2:c.*2672_*2675dup	XP_016860811.1:n.*2672_*2675dup
XM_017005325.2:c.*2672_*2675dup	XP_016860814.1:n.*2672_*2675dup
XM_017005327.2:c.*2672_*2675dup	XP_016860816.1:n.*2672_*2675dup
NM_001330078.2:c.*2672_*2675dup MANE Select	NP_001317007.1:n.*2672_*2675dup
NM_001135659.3:c.*2672_*2675dup	NP_001129131.1:n.*2672_*2675dup
NM_001320156.4:c.*2672_*2675dup	NP_001307085.1:n.*2672_*2675dup
NM_001320157.4:c.*2672_*2675dup	NP_001307086.1:n.*2672_*2675dup
NM_001330077.2:c.*2672_*2675dup	NP_001317006.1:n.*2672_*2675dup
NM_001330082.2:c.*2672_*2675dup	NP_001317011.1:n.*2672_*2675dup
NM_001330083.2:c.*2672_*2675dup	NP_001317012.1:n.*2672_*2675dup
NM_001330084.2:c.*2672_*2675dup	NP_001317013.1:n.*2672_*2675dup
NM_001330085.2:c.*2672_*2675dup	NP_001317014.1:n.*2672_*2675dup
NM_001330086.2:c.*2672_*2675dup	NP_001317015.1:n.*2672_*2675dup
NM_001330087.2:c.*2672_*2675dup	NP_001317016.1:n.*2672_*2675dup
NM_001330088.2:c.*2672_*2675dup	NP_001317017.1:n.*2672_*2675dup
NM_001330091.2:c.*2672_*2675dup	NP_001317020.1:n.*2672_*2675dup
NM_001330092.2:c.*2672_*2675dup	NP_001317021.1:n.*2672_*2675dup
NM_001330093.2:c.*2672_*2675dup	NP_001317022.1:n.*2672_*2675dup
NM_001330094.2:c.*2672_*2675dup	NP_001317023.1:n.*2672_*2675dup
NM_001330095.2:c.*2672_*2675dup	NP_001317024.1:n.*2672_*2675dup
NM_001330096.2:c.*2672_*2675dup	NP_001317025.1:n.*2672_*2675dup
NM_001330097.2:c.*2672_*2675dup	NP_001317026.1:n.*2672_*2675dup
NM_004801.6:c.*2672_*2675dup	NP_004792.1:n.*2672_*2675dup
NM_138735.5:c.*2672_*2675dup	NP_620072.1:n.*2672_*2675dup