Canonical Allele Identifier: CA2692135117

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489474-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489477_130489478del , CM000671.2:g.130489477_130489478del	GRCh38
NC_000009.11:g.133364864_133364865del , CM000671.1:g.133364864_133364865del	GRCh37
NC_000009.10:g.132354685_132354686del	NCBI36
NG_011542.1:g.49771_49772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.970+13_970+14del MANE Select	ENSP00000253004.6:n.970+13_970+14del
ENST00000352480.9:c.970+13_970+14del	ENSP00000253004.6:n.970+13_970+14del
ENST00000372386.6:n.241+13_241+14del
ENST00000372393.7:c.970+13_970+14del	ENSP00000361469.2:n.970+13_970+14del
ENST00000372394.5:c.970+13_970+14del	ENSP00000361471.1:n.970+13_970+14del
NM_000050.4:c.970+13_970+14del	NP_000041.2:n.970+13_970+14del
NM_054012.3:c.970+13_970+14del	NP_446464.1:n.970+13_970+14del
XM_005272200.2:c.970+13_970+14del	XP_005272257.1:n.970+13_970+14del
XM_011518705.1:c.1084+13_1084+14del	XP_011517007.1:n.1084+13_1084+14del
XM_005272200.3:c.970+13_970+14del	XP_005272257.1:n.970+13_970+14del
XM_011518705.2:c.1084+13_1084+14del	XP_011517007.1:n.1084+13_1084+14del
XM_017014729.1:c.1066+13_1066+14del	XP_016870218.1:n.1066+13_1066+14del
NM_054012.4:c.970+13_970+14del MANE Select	NP_446464.1:n.970+13_970+14del