Canonical Allele Identifier: CA2672747515

Gene: AGA

Linked Data

• gnomAD v4: 4-177438791-AGAGCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438795_177438800del , CM000666.2:g.177438795_177438800del	GRCh38
NC_000004.11:g.178359949_178359954del , CM000666.1:g.178359949_178359954del	GRCh37
NC_000004.10:g.178596943_178596948del	NCBI36
NG_011845.2:g.8707_8712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.455_460del MANE Select	ENSP00000264595.2:p.Gln152_Ala153del
ENST00000264595.6:c.455_460del	ENSP00000264595.2:p.Gln152_Ala153del
ENST00000502310.5:c.110_115del	ENSP00000423798.1:p.Gln37_Ala38del
ENST00000506853.5:n.489_494del
ENST00000510635.1:c.151_156del
ENST00000510955.5:n.376_381del
NM_000027.3:c.455_460del	NP_000018.2:p.Gln152_Ala153del
NM_001171988.1:c.455_460del	NP_001165459.1:p.Gln152_Ala153del
NR_033655.1:n.583_588del
XM_006714123.2:c.455_460del	XP_006714186.1:p.Gln152_Ala153del
XR_001741155.2:n.549_554del
NM_000027.4:c.455_460del MANE Select	NP_000018.2:p.Gln152_Ala153del
NM_001171988.2:c.455_460del	NP_001165459.1:p.Gln152_Ala153del
NR_033655.2:n.517_522del