Canonical Allele Identifier: CA16617220
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 422206
ClinVar RCV Id: RCV000482990
dbSNP Id: rs1064795630
MyVariant Identifiers: chr1:g.100357189_100357194del (hg19) chr1:g.99891633_99891638del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99891633_99891638del , CM000663.2:g.99891633_99891638del GRCh38
NC_000001.10:g.100357189_100357194del , CM000663.1:g.100357189_100357194del GRCh37
NC_000001.9:g.100129777_100129782del NCBI36
NG_012865.1:g.46550_46555del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2977_2982del MANE Select ENSP00000355106.3:p.Phe993_Tyr994del
ENST00000637337.1:n.3188_3193del
ENST00000294724.8:c.2977_2982del ENSP00000294724.4:p.Phe993_Tyr994del
ENST00000361302.7:c.2929_2934del ENSP00000354971.3:p.Phe977_Tyr978del
ENST00000361522.4:c.2926_2931del ENSP00000354635.4:p.Phe976_Tyr977del
ENST00000361915.7:c.2977_2982del ENSP00000355106.3:p.Phe993_Tyr994del
ENST00000370161.6:c.2929_2934del ENSP00000359180.2:p.Phe977_Tyr978del
ENST00000370163.7:c.2977_2982del ENSP00000359182.3:p.Phe993_Tyr994del
ENST00000370165.7:c.2977_2982del ENSP00000359184.3:p.Phe993_Tyr994del
NM_000028.2:c.2977_2982del NP_000019.2:p.Phe993_Tyr994del
NM_000642.2:c.2977_2982del NP_000633.2:p.Phe993_Tyr994del
NM_000643.2:c.2977_2982del NP_000634.2:p.Phe993_Tyr994del
NM_000644.2:c.2977_2982del NP_000635.2:p.Phe993_Tyr994del
NM_000645.2:c.2926_2931del NP_000636.2:p.Phe976_Tyr977del
NM_000646.2:c.2929_2934del NP_000637.2:p.Phe977_Tyr978del
XM_005270557.1:c.2977_2982del XP_005270614.1:p.Phe993_Tyr994del
XM_005270557.2:c.2977_2982del XP_005270614.1:p.Phe993_Tyr994del
XM_017000501.2:c.1237_1242del XP_016855990.1:p.Phe413_Tyr414del
NM_000642.3:c.2977_2982del MANE Select NP_000633.2:p.Phe993_Tyr994del
Search 100 bp 5'
Search 100 bp 3'