Canonical Allele Identifier: CA3147011

Gene: AGA

Linked Data

• dbSNP Id: rs746939020
• ExAC: 4:178361615 ATATATT / A
• gnomAD v2: 4-178361615-ATATATT-A
• MyVariant Identifiers: chr4:g.178361616_178361621del (hg19) ; chr4:g.177440462_177440467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440463_177440468del , CM000666.2:g.177440463_177440468del	GRCh38
NC_000004.11:g.178361617_178361622del , CM000666.1:g.178361617_178361622del	GRCh37
NC_000004.10:g.178598611_178598616del	NCBI36
NG_011845.2:g.7037_7042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-41_128-36del MANE Select	ENSP00000264595.2:n.128-41_128-36del
ENST00000264595.6:c.128-41_128-36del	ENSP00000264595.2:n.128-41_128-36del
ENST00000506853.5:n.162-41_162-36del
ENST00000510955.5:n.162-41_162-36del
ENST00000511231.1:n.162-41_162-36del
NM_000027.3:c.128-41_128-36del	NP_000018.2:n.128-41_128-36del
NM_001171988.1:c.128-41_128-36del	NP_001165459.1:n.128-41_128-36del
NR_033655.1:n.256-41_256-36del
XM_006714123.2:c.128-41_128-36del	XP_006714186.1:n.128-41_128-36del
XR_001741155.2:n.222-41_222-36del
NM_000027.4:c.128-41_128-36del MANE Select	NP_000018.2:n.128-41_128-36del
NM_001171988.2:c.128-41_128-36del	NP_001165459.1:n.128-41_128-36del
NR_033655.2:n.190-41_190-36del