Canonical Allele Identifier: CA2672748525

Gene: AGA

Linked Data

• gnomAD v4: 4-177442167-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442169_177442170del , CM000666.2:g.177442169_177442170del	GRCh38
NC_000004.11:g.178363323_178363324del , CM000666.1:g.178363323_178363324del	GRCh37
NC_000004.10:g.178600317_178600318del	NCBI36
NG_011845.2:g.5335_5336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+80_127+81del MANE Select	ENSP00000264595.2:n.127+80_127+81del
ENST00000264595.6:c.127+80_127+81del	ENSP00000264595.2:n.127+80_127+81del
ENST00000506853.5:n.161+80_161+81del
ENST00000510955.5:n.161+80_161+81del
ENST00000511231.1:n.161+80_161+81del
NM_000027.3:c.127+80_127+81del	NP_000018.2:n.127+80_127+81del
NM_001171988.1:c.127+80_127+81del	NP_001165459.1:n.127+80_127+81del
NR_033655.1:n.255+80_255+81del
XM_006714123.2:c.127+80_127+81del	XP_006714186.1:n.127+80_127+81del
XR_001741155.2:n.221+80_221+81del
NM_000027.4:c.127+80_127+81del MANE Select	NP_000018.2:n.127+80_127+81del
NM_001171988.2:c.127+80_127+81del	NP_001165459.1:n.127+80_127+81del
NR_033655.2:n.189+80_189+81del