Canonical Allele Identifier: CA1515644562

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439554_177439556delinsTTC , CM000666.2:g.177439554_177439556delinsTTC	GRCh38
NC_000004.11:g.178360708_178360710delinsTTC , CM000666.1:g.178360708_178360710delinsTTC	GRCh37
NC_000004.10:g.178597702_178597704delinsTTC	NCBI36
NG_011845.2:g.7948_7950delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+20_394+22delinsGAA MANE Select	ENSP00000264595.2:n.394+20_394+22delinsGAA
ENST00000264595.6:c.394+20_394+22delinsGAA	ENSP00000264595.2:n.394+20_394+22delinsGAA
ENST00000502310.5:c.49+20_49+22delinsGAA	ENSP00000423798.1:n.49+20_49+22delinsGAA
ENST00000506853.5:n.428+20_428+22delinsGAA
ENST00000510635.1:c.90+20_90+22delinsGAA
ENST00000510955.5:n.316-699_316-697delinsGAA
NM_000027.3:c.394+20_394+22delinsGAA	NP_000018.2:n.394+20_394+22delinsGAA
NM_001171988.1:c.394+20_394+22delinsGAA	NP_001165459.1:n.394+20_394+22delinsGAA
NR_033655.1:n.522+20_522+22delinsGAA
XM_006714123.2:c.394+20_394+22delinsGAA	XP_006714186.1:n.394+20_394+22delinsGAA
XR_001741155.2:n.488+20_488+22delinsGAA
NM_000027.4:c.394+20_394+22delinsGAA MANE Select	NP_000018.2:n.394+20_394+22delinsGAA
NM_001171988.2:c.394+20_394+22delinsGAA	NP_001165459.1:n.394+20_394+22delinsGAA
NR_033655.2:n.456+20_456+22delinsGAA