Canonical Allele Identifier: CA2692134497

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489242-A-ATTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489244_130489245insTTTTTTTTTTT , CM000671.2:g.130489244_130489245insTTTTTTTTTTT	GRCh38
NC_000009.11:g.133364631_133364632insTTTTTTTTTTT , CM000671.1:g.133364631_133364632insTTTTTTTTTTT	GRCh37
NC_000009.10:g.132354452_132354453insTTTTTTTTTTT	NCBI36
NG_011542.1:g.49538_49539insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-89_839-88insTTTTTTTTTTT MANE Select	ENSP00000253004.6:n.839-89_839-88insTTTTTTTTTTT
ENST00000352480.9:c.839-89_839-88insTTTTTTTTTTT	ENSP00000253004.6:n.839-89_839-88insTTTTTTTTTTT
ENST00000372386.6:n.110-89_110-88insTTTTTTTTTTT
ENST00000372393.7:c.839-89_839-88insTTTTTTTTTTT	ENSP00000361469.2:n.839-89_839-88insTTTTTTTTTTT
ENST00000372394.5:c.839-89_839-88insTTTTTTTTTTT	ENSP00000361471.1:n.839-89_839-88insTTTTTTTTTTT
ENST00000470849.4:n.564-89_564-88insTTTTTTTTTTT
ENST00000492400.5:n.348-89_348-88insTTTTTTTTTTT
ENST00000493984.6:n.616-89_616-88insTTTTTTTTTTT
NM_000050.4:c.839-89_839-88insTTTTTTTTTTT	NP_000041.2:n.839-89_839-88insTTTTTTTTTTT
NM_054012.3:c.839-89_839-88insTTTTTTTTTTT	NP_446464.1:n.839-89_839-88insTTTTTTTTTTT
XM_005272200.2:c.839-89_839-88insTTTTTTTTTTT	XP_005272257.1:n.839-89_839-88insTTTTTTTTTTT
XM_011518705.1:c.953-89_953-88insTTTTTTTTTTT	XP_011517007.1:n.953-89_953-88insTTTTTTTTTTT
XM_005272200.3:c.839-89_839-88insTTTTTTTTTTT	XP_005272257.1:n.839-89_839-88insTTTTTTTTTTT
XM_011518705.2:c.953-89_953-88insTTTTTTTTTTT	XP_011517007.1:n.953-89_953-88insTTTTTTTTTTT
XM_017014729.1:c.935-89_935-88insTTTTTTTTTTT	XP_016870218.1:n.935-89_935-88insTTTTTTTTTTT
NM_054012.4:c.839-89_839-88insTTTTTTTTTTT MANE Select	NP_446464.1:n.839-89_839-88insTTTTTTTTTTT