Canonical Allele Identifier: CA2580079841

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2110105
• ClinVar RCV Id: RCV003042197

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489389_130489390delinsTT , CM000671.2:g.130489389_130489390delinsTT	GRCh38
NC_000009.11:g.133364776_133364777delinsTT , CM000671.1:g.133364776_133364777delinsTT	GRCh37
NC_000009.10:g.132354597_132354598delinsTT	NCBI36
NG_011542.1:g.49683_49684delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.895_896delinsTT MANE Select	ENSP00000253004.6:p.Ala299Phe
ENST00000352480.9:c.895_896delinsTT	ENSP00000253004.6:p.Ala299Phe
ENST00000372386.6:n.166_167delinsTT
ENST00000372393.7:c.895_896delinsTT	ENSP00000361469.2:p.Ala299Phe
ENST00000372394.5:c.895_896delinsTT	ENSP00000361471.1:p.Ala299Phe
ENST00000470849.4:n.620_621delinsTT
ENST00000492400.5:n.404_405delinsTT
ENST00000493984.6:n.672_673delinsTT
NM_000050.4:c.895_896delinsTT	NP_000041.2:p.Ala299Phe
NM_054012.3:c.895_896delinsTT	NP_446464.1:p.Ala299Phe
XM_005272200.2:c.895_896delinsTT	XP_005272257.1:p.Ala299Phe
XM_011518705.1:c.1009_1010delinsTT	XP_011517007.1:p.Ala337Phe
XM_005272200.3:c.895_896delinsTT	XP_005272257.1:p.Ala299Phe
XM_011518705.2:c.1009_1010delinsTT	XP_011517007.1:p.Ala337Phe
XM_017014729.1:c.991_992delinsTT	XP_016870218.1:p.Ala331Phe
NM_054012.4:c.895_896delinsTT MANE Select	NP_446464.1:p.Ala299Phe