Canonical Allele Identifier: CA2692119186

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452094-ACCTTCAGTGGCAGCTTGCCCAGGAGACAAGGCTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452097_130452131del , CM000671.2:g.130452097_130452131del	GRCh38
NC_000009.11:g.133327484_133327518del , CM000671.1:g.133327484_133327518del	GRCh37
NC_000009.10:g.132317305_132317339del	NCBI36
NG_011542.1:g.12391_12425del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-127_-5-93del MANE Select	ENSP00000253004.6:n.-5-127_-5-93del
ENST00000352480.9:c.-5-127_-5-93del	ENSP00000253004.6:n.-5-127_-5-93del
ENST00000372393.7:c.-5-127_-5-93del	ENSP00000361469.2:n.-5-127_-5-93del
ENST00000372394.5:c.-6+54_-6+88del	ENSP00000361471.1:n.-6+54_-6+88del
ENST00000422569.5:c.-5-127_-5-93del	ENSP00000394212.1:n.-5-127_-5-93del
NM_000050.4:c.-5-127_-5-93del	NP_000041.2:n.-5-127_-5-93del
NM_054012.3:c.-5-127_-5-93del	NP_446464.1:n.-5-127_-5-93del
XM_005272200.2:c.-5-127_-5-93del	XP_005272257.1:n.-5-127_-5-93del
XM_011518705.1:c.110-127_110-93del	XP_011517007.1:n.110-127_110-93del
XM_005272200.3:c.-5-127_-5-93del	XP_005272257.1:n.-5-127_-5-93del
XM_011518705.2:c.110-127_110-93del	XP_011517007.1:n.110-127_110-93del
XM_017014729.1:c.92-127_92-93del	XP_016870218.1:n.92-127_92-93del
NM_054012.4:c.-5-127_-5-93del MANE Select	NP_446464.1:n.-5-127_-5-93del