Canonical Allele Identifier: CA1881276684

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489481_130489484delinsGGCT , CM000671.2:g.130489481_130489484delinsGGCT	GRCh38
NC_000009.11:g.133364868_133364871delinsGGCT , CM000671.1:g.133364868_133364871delinsGGCT	GRCh37
NC_000009.10:g.132354689_132354692delinsGGCT	NCBI36
NG_011542.1:g.49775_49778delinsGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+17_970+20delinsGGCT MANE Select	ENSP00000253004.6:n.970+17_970+20delinsGGCT
ENST00000352480.9:c.970+17_970+20delinsGGCT	ENSP00000253004.6:n.970+17_970+20delinsGGCT
ENST00000372386.6:n.241+17_241+20delinsGGCT
ENST00000372393.7:c.970+17_970+20delinsGGCT	ENSP00000361469.2:n.970+17_970+20delinsGGCT
ENST00000372394.5:c.970+17_970+20delinsGGCT	ENSP00000361471.1:n.970+17_970+20delinsGGCT
NM_000050.4:c.970+17_970+20delinsGGCT	NP_000041.2:n.970+17_970+20delinsGGCT
NM_054012.3:c.970+17_970+20delinsGGCT	NP_446464.1:n.970+17_970+20delinsGGCT
XM_005272200.2:c.970+17_970+20delinsGGCT	XP_005272257.1:n.970+17_970+20delinsGGCT
XM_011518705.1:c.1084+17_1084+20delinsGGCT	XP_011517007.1:n.1084+17_1084+20delinsGGCT
XM_005272200.3:c.970+17_970+20delinsGGCT	XP_005272257.1:n.970+17_970+20delinsGGCT
XM_011518705.2:c.1084+17_1084+20delinsGGCT	XP_011517007.1:n.1084+17_1084+20delinsGGCT
XM_017014729.1:c.1066+17_1066+20delinsGGCT	XP_016870218.1:n.1066+17_1066+20delinsGGCT
NM_054012.4:c.970+17_970+20delinsGGCT MANE Select	NP_446464.1:n.970+17_970+20delinsGGCT