Canonical Allele Identifier: CA1515644564

Gene: AGA

Linked Data

• ClinVar Variation Id: 3010635
• ClinVar RCV Id: RCV003862274
• dbSNP Id: rs1736924811

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439555_177439556del , CM000666.2:g.177439555_177439556del	GRCh38
NC_000004.11:g.178360709_178360710del , CM000666.1:g.178360709_178360710del	GRCh37
NC_000004.10:g.178597703_178597704del	NCBI36
NG_011845.2:g.7948_7949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+20_394+21del MANE Select	ENSP00000264595.2:n.394+20_394+21del
ENST00000264595.6:c.394+20_394+21del	ENSP00000264595.2:n.394+20_394+21del
ENST00000502310.5:c.49+20_49+21del	ENSP00000423798.1:n.49+20_49+21del
ENST00000506853.5:n.428+20_428+21del
ENST00000510635.1:c.90+20_90+21del
ENST00000510955.5:n.316-699_316-698del
NM_000027.3:c.394+20_394+21del	NP_000018.2:n.394+20_394+21del
NM_001171988.1:c.394+20_394+21del	NP_001165459.1:n.394+20_394+21del
NR_033655.1:n.522+20_522+21del
XM_006714123.2:c.394+20_394+21del	XP_006714186.1:n.394+20_394+21del
XR_001741155.2:n.488+20_488+21del
NM_000027.4:c.394+20_394+21del MANE Select	NP_000018.2:n.394+20_394+21del
NM_001171988.2:c.394+20_394+21del	NP_001165459.1:n.394+20_394+21del
NR_033655.2:n.456+20_456+21del