Canonical Allele Identifier: CA2672747166

Gene: AGA

Linked Data

• gnomAD v4: 4-177437528-AAGATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437530_177437535del , CM000666.2:g.177437530_177437535del	GRCh38
NC_000004.11:g.178358684_178358689del , CM000666.1:g.178358684_178358689del	GRCh37
NC_000004.10:g.178595678_178595683del	NCBI36
NG_011845.2:g.9970_9975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-15_508-10del MANE Select	ENSP00000264595.2:n.508-15_508-10del
ENST00000264595.6:c.508-15_508-10del	ENSP00000264595.2:n.508-15_508-10del
ENST00000502310.5:c.163-15_163-10del	ENSP00000423798.1:n.163-15_163-10del
ENST00000506853.5:n.542-15_542-10del
ENST00000510635.1:c.204-15_204-10del
ENST00000510955.5:n.429-15_429-10del
NM_000027.3:c.508-15_508-10del	NP_000018.2:n.508-15_508-10del
NM_001171988.1:c.508-15_508-10del	NP_001165459.1:n.508-15_508-10del
NR_033655.1:n.636-15_636-10del
XM_006714123.2:c.508-15_508-10del	XP_006714186.1:n.508-15_508-10del
XR_001741155.2:n.602-15_602-10del
NM_000027.4:c.508-15_508-10del MANE Select	NP_000018.2:n.508-15_508-10del
NM_001171988.2:c.508-15_508-10del	NP_001165459.1:n.508-15_508-10del
NR_033655.2:n.570-15_570-10del