Canonical Allele Identifier: CA1515648998

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442213_177442225delinsGCGGCGCAGCCGC , CM000666.2:g.177442213_177442225delinsGCGGCGCAGCCGC	GRCh38
NC_000004.11:g.178363367_178363379delinsGCGGCGCAGCCGC , CM000666.1:g.178363367_178363379delinsGCGGCGCAGCCGC	GRCh37
NC_000004.10:g.178600361_178600373delinsGCGGCGCAGCCGC	NCBI36
NG_011845.2:g.5279_5291delinsGCGGCTGCGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+24_127+36delinsGCGGCTGCGCCGC MANE Select	ENSP00000264595.2:n.127+24_127+36delinsGCGGCTGCGCCGC
ENST00000264595.6:c.127+24_127+36delinsGCGGCTGCGCCGC	ENSP00000264595.2:n.127+24_127+36delinsGCGGCTGCGCCGC
ENST00000506853.5:n.161+24_161+36delinsGCGGCTGCGCCGC
ENST00000510955.5:n.161+24_161+36delinsGCGGCTGCGCCGC
ENST00000511231.1:n.161+24_161+36delinsGCGGCTGCGCCGC
NM_000027.3:c.127+24_127+36delinsGCGGCTGCGCCGC	NP_000018.2:n.127+24_127+36delinsGCGGCTGCGCCGC
NM_001171988.1:c.127+24_127+36delinsGCGGCTGCGCCGC	NP_001165459.1:n.127+24_127+36delinsGCGGCTGCGCCGC
NR_033655.1:n.255+24_255+36delinsGCGGCTGCGCCGC
XM_006714123.2:c.127+24_127+36delinsGCGGCTGCGCCGC	XP_006714186.1:n.127+24_127+36delinsGCGGCTGCGCCGC
XR_001741155.2:n.221+24_221+36delinsGCGGCTGCGCCGC
NM_000027.4:c.127+24_127+36delinsGCGGCTGCGCCGC MANE Select	NP_000018.2:n.127+24_127+36delinsGCGGCTGCGCCGC
NM_001171988.2:c.127+24_127+36delinsGCGGCTGCGCCGC	NP_001165459.1:n.127+24_127+36delinsGCGGCTGCGCCGC
NR_033655.2:n.189+24_189+36delinsGCGGCTGCGCCGC