Canonical Allele Identifier: CA1515648929

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442193_177442194delinsAT , CM000666.2:g.177442193_177442194delinsAT	GRCh38
NC_000004.11:g.178363347_178363348delinsAT , CM000666.1:g.178363347_178363348delinsAT	GRCh37
NC_000004.10:g.178600341_178600342delinsAT	NCBI36
NG_011845.2:g.5310_5311delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+55_127+56delinsAT MANE Select	ENSP00000264595.2:n.127+55_127+56delinsAT
ENST00000264595.6:c.127+55_127+56delinsAT	ENSP00000264595.2:n.127+55_127+56delinsAT
ENST00000506853.5:n.161+55_161+56delinsAT
ENST00000510955.5:n.161+55_161+56delinsAT
ENST00000511231.1:n.161+55_161+56delinsAT
NM_000027.3:c.127+55_127+56delinsAT	NP_000018.2:n.127+55_127+56delinsAT
NM_001171988.1:c.127+55_127+56delinsAT	NP_001165459.1:n.127+55_127+56delinsAT
NR_033655.1:n.255+55_255+56delinsAT
XM_006714123.2:c.127+55_127+56delinsAT	XP_006714186.1:n.127+55_127+56delinsAT
XR_001741155.2:n.221+55_221+56delinsAT
NM_000027.4:c.127+55_127+56delinsAT MANE Select	NP_000018.2:n.127+55_127+56delinsAT
NM_001171988.2:c.127+55_127+56delinsAT	NP_001165459.1:n.127+55_127+56delinsAT
NR_033655.2:n.189+55_189+56delinsAT