Canonical Allele Identifier: CA1071331042

Gene: AGA

Linked Data

• dbSNP Id: rs1736969914
• gnomAD v3: 4-177440650-GGT-G
• gnomAD v4: 4-177440650-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440651_177440652del , CM000666.2:g.177440651_177440652del	GRCh38
NC_000004.11:g.178361805_178361806del , CM000666.1:g.178361805_178361806del	GRCh37
NC_000004.10:g.178598799_178598800del	NCBI36
NG_011845.2:g.6852_6853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-226_128-225del MANE Select	ENSP00000264595.2:n.128-226_128-225del
ENST00000264595.6:c.128-226_128-225del	ENSP00000264595.2:n.128-226_128-225del
ENST00000506853.5:n.162-226_162-225del
ENST00000510955.5:n.162-226_162-225del
ENST00000511231.1:n.162-226_162-225del
NM_000027.3:c.128-226_128-225del	NP_000018.2:n.128-226_128-225del
NM_001171988.1:c.128-226_128-225del	NP_001165459.1:n.128-226_128-225del
NR_033655.1:n.256-226_256-225del
XM_006714123.2:c.128-226_128-225del	XP_006714186.1:n.128-226_128-225del
XR_001741155.2:n.222-226_222-225del
NM_000027.4:c.128-226_128-225del MANE Select	NP_000018.2:n.128-226_128-225del
NM_001171988.2:c.128-226_128-225del	NP_001165459.1:n.128-226_128-225del
NR_033655.2:n.190-226_190-225del