Canonical Allele Identifier: CA556485098

Gene: AGA

Linked Data

• gnomAD v2: 4-178361824-ACTAATAT-A
• gnomAD v3: 4-177440670-ACTAATAT-A
• gnomAD v4: 4-177440670-ACTAATAT-A
• MyVariant Identifiers: chr4:g.178361825_178361831del (hg19) ; chr4:g.177440671_177440677del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440674_177440680del , CM000666.2:g.177440674_177440680del	GRCh38
NC_000004.11:g.178361828_178361834del , CM000666.1:g.178361828_178361834del	GRCh37
NC_000004.10:g.178598822_178598828del	NCBI36
NG_011845.2:g.6827_6833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-251_128-245del MANE Select	ENSP00000264595.2:n.128-251_128-245del
ENST00000264595.6:c.128-251_128-245del	ENSP00000264595.2:n.128-251_128-245del
ENST00000506853.5:n.162-251_162-245del
ENST00000510955.5:n.162-251_162-245del
ENST00000511231.1:n.162-251_162-245del
NM_000027.3:c.128-251_128-245del	NP_000018.2:n.128-251_128-245del
NM_001171988.1:c.128-251_128-245del	NP_001165459.1:n.128-251_128-245del
NR_033655.1:n.256-251_256-245del
XM_006714123.2:c.128-251_128-245del	XP_006714186.1:n.128-251_128-245del
XR_001741155.2:n.222-251_222-245del
NM_000027.4:c.128-251_128-245del MANE Select	NP_000018.2:n.128-251_128-245del
NM_001171988.2:c.128-251_128-245del	NP_001165459.1:n.128-251_128-245del
NR_033655.2:n.190-251_190-245del