Canonical Allele Identifier: CA2672748567

Gene: AGA

Linked Data

• gnomAD v4: 4-177442225-CCCGCCCAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442231_177442239del , CM000666.2:g.177442231_177442239del	GRCh38
NC_000004.11:g.178363385_178363393del , CM000666.1:g.178363385_178363393del	GRCh37
NC_000004.10:g.178600379_178600387del	NCBI36
NG_011845.2:g.5270_5278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+15_127+23del MANE Select	ENSP00000264595.2:n.127+15_127+23del
ENST00000264595.6:c.127+15_127+23del	ENSP00000264595.2:n.127+15_127+23del
ENST00000506853.5:n.161+15_161+23del
ENST00000510955.5:n.161+15_161+23del
ENST00000511231.1:n.161+15_161+23del
NM_000027.3:c.127+15_127+23del	NP_000018.2:n.127+15_127+23del
NM_001171988.1:c.127+15_127+23del	NP_001165459.1:n.127+15_127+23del
NR_033655.1:n.255+15_255+23del
XM_006714123.2:c.127+15_127+23del	XP_006714186.1:n.127+15_127+23del
XR_001741155.2:n.221+15_221+23del
NM_000027.4:c.127+15_127+23del MANE Select	NP_000018.2:n.127+15_127+23del
NM_001171988.2:c.127+15_127+23del	NP_001165459.1:n.127+15_127+23del
NR_033655.2:n.189+15_189+23del