Canonical Allele Identifier: CA860470048

Gene: ASS1

Linked Data

• dbSNP Id: rs1214496306
• gnomAD v2: 9-133331314-CCTT-C
• gnomAD v3: 9-130455927-CCTT-C
• gnomAD v4: 9-130455927-CCTT-C
• MyVariant Identifiers: chr9:g.133331315_133331317del (hg19) ; chr9:g.130455928_130455930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130455928_130455930del , CM000671.2:g.130455928_130455930del	GRCh38
NC_000009.11:g.133331315_133331317del , CM000671.1:g.133331315_133331317del	GRCh37
NC_000009.10:g.132321136_132321138del	NCBI36
NG_011542.1:g.16222_16224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.174+1555_174+1557del MANE Select	ENSP00000253004.6:n.174+1555_174+1557del
ENST00000352480.9:c.174+1555_174+1557del	ENSP00000253004.6:n.174+1555_174+1557del
ENST00000372393.7:c.174+1555_174+1557del	ENSP00000361469.2:n.174+1555_174+1557del
ENST00000372394.5:c.174+1555_174+1557del	ENSP00000361471.1:n.174+1555_174+1557del
ENST00000422569.5:c.174+1555_174+1557del	ENSP00000394212.1:n.174+1555_174+1557del
ENST00000443588.1:c.174+1555_174+1557del	ENSP00000397785.1:n.174+1555_174+1557del
NM_000050.4:c.174+1555_174+1557del	NP_000041.2:n.174+1555_174+1557del
NM_054012.3:c.174+1555_174+1557del	NP_446464.1:n.174+1555_174+1557del
XM_005272200.2:c.174+1555_174+1557del	XP_005272257.1:n.174+1555_174+1557del
XM_011518705.1:c.288+1555_288+1557del	XP_011517007.1:n.288+1555_288+1557del
XM_005272200.3:c.174+1555_174+1557del	XP_005272257.1:n.174+1555_174+1557del
XM_011518705.2:c.288+1555_288+1557del	XP_011517007.1:n.288+1555_288+1557del
XM_017014729.1:c.270+1555_270+1557del	XP_016870218.1:n.270+1555_270+1557del
NM_054012.4:c.174+1555_174+1557del MANE Select	NP_446464.1:n.174+1555_174+1557del