Canonical Allele Identifier: CA2499216271

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1073658
• ClinVar RCV Id: RCV001386725 ; RCV002413916
• dbSNP Id: rs2104104427
• gnomAD v4: 2-73572492-AAGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572496_73572499del , CM000664.2:g.73572496_73572499del	GRCh38
NC_000002.11:g.73799623_73799626del , CM000664.1:g.73799623_73799626del	GRCh37
NC_000002.10:g.73653131_73653134del	NCBI36
NG_011690.1:g.191744_191747del , LRG_741:g.191744_191747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10238_10241del	ENSP00000507671.1:p.Thr3413IlefsTer5
ENST00000682801.1:c.10238_10241del	ENSP00000507862.1:p.Thr3413IlefsTer5
ENST00000682859.1:c.10238_10241del	ENSP00000508222.1:p.Thr3413IlefsTer5
ENST00000683791.1:c.3324_3327del
ENST00000684460.1:c.7519_7522del
ENST00000684548.1:c.10238_10241del	ENSP00000507421.1:p.Thr3413IlefsTer5
ENST00000684590.1:c.4685_4688del	ENSP00000507376.1:p.Thr1562IlefsTer5
ENST00000684656.1:c.7564_7567del
ENST00000613296.6:c.10619_10622del MANE Select	ENSP00000482968.1:p.Thr3540IlefsTer5
ENST00000651057.1:c.773_776del	ENSP00000498504.1:p.Thr258IlefsTer5
ENST00000651434.1:c.1975_1978del
ENST00000651750.1:c.7_10del
ENST00000652487.1:c.1716_1719del
ENST00000423048.5:c.4110_4113del	ENSP00000399833.1:n.4110_4113del
ENST00000484298.5:c.10493_10496del	ENSP00000478155.1:p.Thr3498IlefsTer5
ENST00000613296.4:c.10619_10622del	ENSP00000482968.1:p.Thr3540IlefsTer5
ENST00000614410.4:c.10619_10622del	ENSP00000479094.1:p.Thr3540IlefsTer5
ENST00000620466.4:n.4422_4425del
NM_015120.4:c.10622_10625del , LRG_741t1:c.10622_10625del	NP_055935.4:p.Thr3541IlefsTer5
NM_001378454.1:c.10619_10622del MANE Select	NP_001365383.1:p.Thr3540IlefsTer5