Canonical Allele Identifier: CA2692133887

Gene: ASS1

Linked Data

• gnomAD v4: 9-130480318-C-CCAGCTGGGCTGTCCCAGGGTGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480326_130480327insCTGTCCCAGGGTGGGCACAGCTGGG , CM000671.2:g.130480326_130480327insCTGTCCCAGGGTGGGCACAGCTGGG	GRCh38
NC_000009.11:g.133355713_133355714insCTGTCCCAGGGTGGGCACAGCTGGG , CM000671.1:g.133355713_133355714insCTGTCCCAGGGTGGGCACAGCTGGG	GRCh37
NC_000009.10:g.132345534_132345535insCTGTCCCAGGGTGGGCACAGCTGGG	NCBI36
NG_011542.1:g.40620_40621insCTGTCCCAGGGTGGGCACAGCTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG MANE Select	ENSP00000253004.6:n.774-59_774-58insCTGTC...
ENST00000352480.9:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	ENSP00000253004.6:n.774-59_774-58insCTGTC...
ENST00000372386.6:n.45-59_45-58insCTGTCCCAGGGTGGGCACAGCTGGG
ENST00000372393.7:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	ENSP00000361469.2:n.774-59_774-58insCTGTC...
ENST00000372394.5:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	ENSP00000361471.1:n.774-59_774-58insCTGTC...
ENST00000470849.4:n.499-59_499-58insCTGTCCCAGGGTGGGCACAGCTGGG
ENST00000492400.5:n.283-59_283-58insCTGTCCCAGGGTGGGCACAGCTGGG
ENST00000493984.6:n.551-59_551-58insCTGTCCCAGGGTGGGCACAGCTGGG
NM_000050.4:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	NP_000041.2:n.774-59_774-58insCTGTCCCAGGG...
NM_054012.3:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	NP_446464.1:n.774-59_774-58insCTGTCCCAGGG...
XM_005272200.2:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	XP_005272257.1:n.774-59_774-58insCTGTCCCA...
XM_011518705.1:c.888-59_888-58insCTGTCCCAGGGTGGGCACAGCTGGG	XP_011517007.1:n.888-59_888-58insCTGTCCCA...
XM_005272200.3:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG	XP_005272257.1:n.774-59_774-58insCTGTCCCA...
XM_011518705.2:c.888-59_888-58insCTGTCCCAGGGTGGGCACAGCTGGG	XP_011517007.1:n.888-59_888-58insCTGTCCCA...
XM_017014729.1:c.870-59_870-58insCTGTCCCAGGGTGGGCACAGCTGGG	XP_016870218.1:n.870-59_870-58insCTGTCCCA...
NM_054012.4:c.774-59_774-58insCTGTCCCAGGGTGGGCACAGCTGGG MANE Select	NP_446464.1:n.774-59_774-58insCTGTCCCAGGG...