Canonical Allele Identifier: CA2692119326

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452227-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452229_130452230del , CM000671.2:g.130452229_130452230del	GRCh38
NC_000009.11:g.133327616_133327617del , CM000671.1:g.133327616_133327617del	GRCh37
NC_000009.10:g.132317437_132317438del	NCBI36
NG_011542.1:g.12523_12524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.1_2del MANE Select	ENSP00000253004.6:p.Met1ValfsTer29
ENST00000352480.9:c.1_2del	ENSP00000253004.6:p.Met1ValfsTer29
ENST00000372393.7:c.1_2del	ENSP00000361469.2:p.Met1ValfsTer29
ENST00000372394.5:c.1_2del	ENSP00000361471.1:p.Met1ValfsTer29
ENST00000422569.5:c.1_2del	ENSP00000394212.1:p.Met1ValfsTer29
ENST00000443588.1:c.1_2del	ENSP00000397785.1:p.Met1ValfsTer29
NM_000050.4:c.1_2del	NP_000041.2:p.Met1ValfsTer29
NM_054012.3:c.1_2del	NP_446464.1:p.Met1ValfsTer29
XM_005272200.2:c.1_2del	XP_005272257.1:p.Met1ValfsTer29
XM_011518705.1:c.115_116del	XP_011517007.1:p.Met39ValfsTer29
XM_005272200.3:c.1_2del	XP_005272257.1:p.Met1ValfsTer29
XM_011518705.2:c.115_116del	XP_011517007.1:p.Met39ValfsTer29
XM_017014729.1:c.97_98del	XP_016870218.1:p.Met33ValfsTer29
NM_054012.4:c.1_2del MANE Select	NP_446464.1:p.Met1ValfsTer29