Canonical Allele Identifier: CA1515644565

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439555_177439557delinsTCA , CM000666.2:g.177439555_177439557delinsTCA	GRCh38
NC_000004.11:g.178360709_178360711delinsTCA , CM000666.1:g.178360709_178360711delinsTCA	GRCh37
NC_000004.10:g.178597703_178597705delinsTCA	NCBI36
NG_011845.2:g.7947_7949delinsTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.394+19_394+21delinsTGA MANE Select	ENSP00000264595.2:n.394+19_394+21delinsTG...
ENST00000264595.6:c.394+19_394+21delinsTGA	ENSP00000264595.2:n.394+19_394+21delinsTG...
ENST00000502310.5:c.49+19_49+21delinsTGA	ENSP00000423798.1:n.49+19_49+21delinsTGA
ENST00000506853.5:n.428+19_428+21delinsTGA
ENST00000510635.1:c.90+19_90+21delinsTGA
ENST00000510955.5:n.316-700_316-698delinsTGA
NM_000027.3:c.394+19_394+21delinsTGA	NP_000018.2:n.394+19_394+21delinsTGA
NM_001171988.1:c.394+19_394+21delinsTGA	NP_001165459.1:n.394+19_394+21delinsTGA
NR_033655.1:n.522+19_522+21delinsTGA
XM_006714123.2:c.394+19_394+21delinsTGA	XP_006714186.1:n.394+19_394+21delinsTGA
XR_001741155.2:n.488+19_488+21delinsTGA
NM_000027.4:c.394+19_394+21delinsTGA MANE Select	NP_000018.2:n.394+19_394+21delinsTGA
NM_001171988.2:c.394+19_394+21delinsTGA	NP_001165459.1:n.394+19_394+21delinsTGA
NR_033655.2:n.456+19_456+21delinsTGA