Canonical Allele Identifier: CA1881248187

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130456013_130456014delinsGA , CM000671.2:g.130456013_130456014delinsGA	GRCh38
NC_000009.11:g.133331400_133331401delinsGA , CM000671.1:g.133331400_133331401delinsGA	GRCh37
NC_000009.10:g.132321221_132321222delinsGA	NCBI36
NG_011542.1:g.16307_16308delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.174+1640_174+1641delinsGA MANE Select	ENSP00000253004.6:n.174+1640_174+1641delinsGA
ENST00000352480.9:c.174+1640_174+1641delinsGA	ENSP00000253004.6:n.174+1640_174+1641delinsGA
ENST00000372393.7:c.174+1640_174+1641delinsGA	ENSP00000361469.2:n.174+1640_174+1641delinsGA
ENST00000372394.5:c.174+1640_174+1641delinsGA	ENSP00000361471.1:n.174+1640_174+1641delinsGA
ENST00000422569.5:c.174+1640_174+1641delinsGA	ENSP00000394212.1:n.174+1640_174+1641delinsGA
ENST00000443588.1:c.174+1640_174+1641delinsGA	ENSP00000397785.1:n.174+1640_174+1641delinsGA
NM_000050.4:c.174+1640_174+1641delinsGA	NP_000041.2:n.174+1640_174+1641delinsGA
NM_054012.3:c.174+1640_174+1641delinsGA	NP_446464.1:n.174+1640_174+1641delinsGA
XM_005272200.2:c.174+1640_174+1641delinsGA	XP_005272257.1:n.174+1640_174+1641delinsGA
XM_011518705.1:c.288+1640_288+1641delinsGA	XP_011517007.1:n.288+1640_288+1641delinsGA
XM_005272200.3:c.174+1640_174+1641delinsGA	XP_005272257.1:n.174+1640_174+1641delinsGA
XM_011518705.2:c.288+1640_288+1641delinsGA	XP_011517007.1:n.288+1640_288+1641delinsGA
XM_017014729.1:c.270+1640_270+1641delinsGA	XP_016870218.1:n.270+1640_270+1641delinsGA
NM_054012.4:c.174+1640_174+1641delinsGA MANE Select	NP_446464.1:n.174+1640_174+1641delinsGA