Canonical Allele Identifier: CA1515649217

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442268_177442275delinsAAAGGGCC , CM000666.2:g.177442268_177442275delinsAAAGGGCC	GRCh38
NC_000004.11:g.178363422_178363429delinsAAAGGGCC , CM000666.1:g.178363422_178363429delinsAAAGGGCC	GRCh37
NC_000004.10:g.178600416_178600423delinsAAAGGGCC	NCBI36
NG_011845.2:g.5229_5236delinsGGCCCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.101_108delinsGGCCCTTT MANE Select	ENSP00000264595.2:p.Trp34=
ENST00000264595.6:c.101_108delinsGGCCCTTT	ENSP00000264595.2:p.Trp34=
ENST00000506853.5:n.135_142delinsGGCCCTTT
ENST00000510955.5:n.135_142delinsGGCCCTTT
ENST00000511231.1:n.135_142delinsGGCCCTTT
NM_000027.3:c.101_108delinsGGCCCTTT	NP_000018.2:p.Trp34=
NM_001171988.1:c.101_108delinsGGCCCTTT	NP_001165459.1:p.Trp34=
NR_033655.1:n.229_236delinsGGCCCTTT
XM_006714123.2:c.101_108delinsGGCCCTTT	XP_006714186.1:p.Trp34=
XR_001741155.2:n.195_202delinsGGCCCTTT
NM_000027.4:c.101_108delinsGGCCCTTT MANE Select	NP_000018.2:p.Trp34=
NM_001171988.2:c.101_108delinsGGCCCTTT	NP_001165459.1:p.Trp34=
NR_033655.2:n.163_170delinsGGCCCTTT