Canonical Allele Identifier: CA1515649206
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442267_177442274delinsTAAAGGGC , CM000666.2:g.177442267_177442274delinsTAAAGGGC GRCh38
NC_000004.11:g.178363421_178363428delinsTAAAGGGC , CM000666.1:g.178363421_178363428delinsTAAAGGGC GRCh37
NC_000004.10:g.178600415_178600422delinsTAAAGGGC NCBI36
NG_011845.2:g.5230_5237delinsGCCCTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.102_109delinsGCCCTTTA MANE Select ENSP00000264595.2:p.Trp34=
ENST00000264595.6:c.102_109delinsGCCCTTTA ENSP00000264595.2:p.Trp34=
ENST00000506853.5:n.136_143delinsGCCCTTTA
ENST00000510955.5:n.136_143delinsGCCCTTTA
ENST00000511231.1:n.136_143delinsGCCCTTTA
NM_000027.3:c.102_109delinsGCCCTTTA NP_000018.2:p.Trp34=
NM_001171988.1:c.102_109delinsGCCCTTTA NP_001165459.1:p.Trp34=
NR_033655.1:n.230_237delinsGCCCTTTA
XM_006714123.2:c.102_109delinsGCCCTTTA XP_006714186.1:p.Trp34=
XR_001741155.2:n.196_203delinsGCCCTTTA
NM_000027.4:c.102_109delinsGCCCTTTA MANE Select NP_000018.2:p.Trp34=
NM_001171988.2:c.102_109delinsGCCCTTTA NP_001165459.1:p.Trp34=
NR_033655.2:n.164_171delinsGCCCTTTA