Canonical Allele Identifier: CA2786082787

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489263_130489264insTTTTTTTA , CM000671.2:g.130489263_130489264insTTTTTTTA	GRCh38
NC_000009.11:g.133364650_133364651insTTTTTTTA , CM000671.1:g.133364650_133364651insTTTTTTTA	GRCh37
NC_000009.10:g.132354471_132354472insTTTTTTTA	NCBI36
NG_011542.1:g.49557_49558insTTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-70_839-69insTTTTTTTA MANE Select	ENSP00000253004.6:n.839-70_839-69insTTTTTTTA
ENST00000352480.9:c.839-70_839-69insTTTTTTTA	ENSP00000253004.6:n.839-70_839-69insTTTTTTTA
ENST00000372386.6:n.110-70_110-69insTTTTTTTA
ENST00000372393.7:c.839-70_839-69insTTTTTTTA	ENSP00000361469.2:n.839-70_839-69insTTTTTTTA
ENST00000372394.5:c.839-70_839-69insTTTTTTTA	ENSP00000361471.1:n.839-70_839-69insTTTTTTTA
ENST00000470849.4:n.564-70_564-69insTTTTTTTA
ENST00000492400.5:n.348-70_348-69insTTTTTTTA
ENST00000493984.6:n.616-70_616-69insTTTTTTTA
NM_000050.4:c.839-70_839-69insTTTTTTTA	NP_000041.2:n.839-70_839-69insTTTTTTTA
NM_054012.3:c.839-70_839-69insTTTTTTTA	NP_446464.1:n.839-70_839-69insTTTTTTTA
XM_005272200.2:c.839-70_839-69insTTTTTTTA	XP_005272257.1:n.839-70_839-69insTTTTTTTA
XM_011518705.1:c.953-70_953-69insTTTTTTTA	XP_011517007.1:n.953-70_953-69insTTTTTTTA
XM_005272200.3:c.839-70_839-69insTTTTTTTA	XP_005272257.1:n.839-70_839-69insTTTTTTTA
XM_011518705.2:c.953-70_953-69insTTTTTTTA	XP_011517007.1:n.953-70_953-69insTTTTTTTA
XM_017014729.1:c.935-70_935-69insTTTTTTTA	XP_016870218.1:n.935-70_935-69insTTTTTTTA
NM_054012.4:c.839-70_839-69insTTTTTTTA MANE Select	NP_446464.1:n.839-70_839-69insTTTTTTTA