Canonical Allele Identifier: CA590704905

Gene: ASS1

Linked Data

• dbSNP Id: rs1225504543
• gnomAD v2: 9-133339440-CCCAGACTCCA-C
• gnomAD v3: 9-130464053-CCCAGACTCCA-C
• gnomAD v4: 9-130464053-CCCAGACTCCA-C
• MyVariant Identifiers: chr9:g.133339441_133339450del (hg19) ; chr9:g.130464054_130464063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130464054_130464063del , CM000671.2:g.130464054_130464063del	GRCh38
NC_000009.11:g.133339441_133339450del , CM000671.1:g.133339441_133339450del	GRCh37
NC_000009.10:g.132329262_132329271del	NCBI36
NG_011542.1:g.24348_24357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.364-57_364-48del MANE Select	ENSP00000253004.6:n.364-57_364-48del
ENST00000352480.9:c.364-57_364-48del	ENSP00000253004.6:n.364-57_364-48del
ENST00000372393.7:c.364-57_364-48del	ENSP00000361469.2:n.364-57_364-48del
ENST00000372394.5:c.364-57_364-48del	ENSP00000361471.1:n.364-57_364-48del
ENST00000422569.5:c.364-57_364-48del	ENSP00000394212.1:n.364-57_364-48del
ENST00000443588.1:c.364-2671_364-2662del	ENSP00000397785.1:n.364-2671_364-2662del
ENST00000467695.5:n.73-57_73-48del
NM_000050.4:c.364-57_364-48del	NP_000041.2:n.364-57_364-48del
NM_054012.3:c.364-57_364-48del	NP_446464.1:n.364-57_364-48del
XM_005272200.2:c.364-57_364-48del	XP_005272257.1:n.364-57_364-48del
XM_011518705.1:c.478-57_478-48del	XP_011517007.1:n.478-57_478-48del
XM_005272200.3:c.364-57_364-48del	XP_005272257.1:n.364-57_364-48del
XM_011518705.2:c.478-57_478-48del	XP_011517007.1:n.478-57_478-48del
XM_017014729.1:c.460-57_460-48del	XP_016870218.1:n.460-57_460-48del
NM_054012.4:c.364-57_364-48del MANE Select	NP_446464.1:n.364-57_364-48del