Canonical Allele Identifier: CA590703906

Gene: ASS1

Linked Data

• dbSNP Id: rs1302698187
• gnomAD v2: 9-133331302-T-TCC
• gnomAD v3: 9-130455915-T-TCC
• gnomAD v4: 9-130455915-T-TCC
• MyVariant Identifiers: chr9:g.133331302_133331303insCC (hg19) ; chr9:g.130455915_130455916insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130455915_130455916insCC , CM000671.2:g.130455915_130455916insCC	GRCh38
NC_000009.11:g.133331302_133331303insCC , CM000671.1:g.133331302_133331303insCC	GRCh37
NC_000009.10:g.132321123_132321124insCC	NCBI36
NG_011542.1:g.16209_16210insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.174+1542_174+1543insCC MANE Select	ENSP00000253004.6:n.174+1542_174+1543insC...
ENST00000352480.9:c.174+1542_174+1543insCC	ENSP00000253004.6:n.174+1542_174+1543insC...
ENST00000372393.7:c.174+1542_174+1543insCC	ENSP00000361469.2:n.174+1542_174+1543insC...
ENST00000372394.5:c.174+1542_174+1543insCC	ENSP00000361471.1:n.174+1542_174+1543insC...
ENST00000422569.5:c.174+1542_174+1543insCC	ENSP00000394212.1:n.174+1542_174+1543insC...
ENST00000443588.1:c.174+1542_174+1543insCC	ENSP00000397785.1:n.174+1542_174+1543insC...
NM_000050.4:c.174+1542_174+1543insCC	NP_000041.2:n.174+1542_174+1543insCC
NM_054012.3:c.174+1542_174+1543insCC	NP_446464.1:n.174+1542_174+1543insCC
XM_005272200.2:c.174+1542_174+1543insCC	XP_005272257.1:n.174+1542_174+1543insCC
XM_011518705.1:c.288+1542_288+1543insCC	XP_011517007.1:n.288+1542_288+1543insCC
XM_005272200.3:c.174+1542_174+1543insCC	XP_005272257.1:n.174+1542_174+1543insCC
XM_011518705.2:c.288+1542_288+1543insCC	XP_011517007.1:n.288+1542_288+1543insCC
XM_017014729.1:c.270+1542_270+1543insCC	XP_016870218.1:n.270+1542_270+1543insCC
NM_054012.4:c.174+1542_174+1543insCC MANE Select	NP_446464.1:n.174+1542_174+1543insCC