Canonical Allele Identifier: CA1515648861

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442171_177442181delinsACTGCAGCGGG , CM000666.2:g.177442171_177442181delinsACTGCAGCGGG	GRCh38
NC_000004.11:g.178363325_178363335delinsACTGCAGCGGG , CM000666.1:g.178363325_178363335delinsACTGCAGCGGG	GRCh37
NC_000004.10:g.178600319_178600329delinsACTGCAGCGGG	NCBI36
NG_011845.2:g.5323_5333delinsCCCGCTGCAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.127+68_127+78delinsCCCGCTGCAGT MANE Select	ENSP00000264595.2:n.127+68_127+78delinsCC...
ENST00000264595.6:c.127+68_127+78delinsCCCGCTGCAGT	ENSP00000264595.2:n.127+68_127+78delinsCC...
ENST00000506853.5:n.161+68_161+78delinsCCCGCTGCAGT
ENST00000510955.5:n.161+68_161+78delinsCCCGCTGCAGT
ENST00000511231.1:n.161+68_161+78delinsCCCGCTGCAGT
NM_000027.3:c.127+68_127+78delinsCCCGCTGCAGT	NP_000018.2:n.127+68_127+78delinsCCCGCTGC...
NM_001171988.1:c.127+68_127+78delinsCCCGCTGCAGT	NP_001165459.1:n.127+68_127+78delinsCCCGC...
NR_033655.1:n.255+68_255+78delinsCCCGCTGCAGT
XM_006714123.2:c.127+68_127+78delinsCCCGCTGCAGT	XP_006714186.1:n.127+68_127+78delinsCCCGC...
XR_001741155.2:n.221+68_221+78delinsCCCGCTGCAGT
NM_000027.4:c.127+68_127+78delinsCCCGCTGCAGT MANE Select	NP_000018.2:n.127+68_127+78delinsCCCGCTGC...
NM_001171988.2:c.127+68_127+78delinsCCCGCTGCAGT	NP_001165459.1:n.127+68_127+78delinsCCCGC...
NR_033655.2:n.189+68_189+78delinsCCCGCTGCAGT