Canonical Allele Identifier: CA658657041

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 451381
• ClinVar RCV Id: RCV000523272 ; RCV000984143 ; RCV001375096
• dbSNP Id: rs1553404310
• gnomAD v4: 2-73453295-TA-T
• MyVariant Identifiers: chr2:g.73680426del (hg19) ; chr2:g.73453299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453299del , CM000664.2:g.73453299del	GRCh38
NC_000002.11:g.73680426del , CM000664.1:g.73680426del	GRCh37
NC_000002.10:g.73533934del	NCBI36
NG_011690.1:g.72547del , LRG_741:g.72547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.6391del	ENSP00000507671.1:p.Thr2131LeufsTer9
ENST00000682801.1:c.6391del	ENSP00000507862.1:p.Thr2131LeufsTer9
ENST00000682859.1:c.6391del	ENSP00000508222.1:p.Thr2131LeufsTer9
ENST00000683791.1:c.685+21008del
ENST00000684197.1:n.1741del
ENST00000684460.1:c.3843del
ENST00000684548.1:c.6391del	ENSP00000507421.1:p.Thr2131LeufsTer9
ENST00000684590.1:c.889del	ENSP00000507376.1:p.Thr297LeufsTer9
ENST00000684656.1:c.3843del
ENST00000613296.6:c.6772del MANE Select	ENSP00000482968.1:p.Thr2258LeufsTer9
ENST00000423048.5:c.1603del	ENSP00000399833.1:p.Thr535LeufsTer9
ENST00000484298.5:c.6646del	ENSP00000478155.1:p.Thr2216LeufsTer9
ENST00000613296.4:c.6772del	ENSP00000482968.1:p.Thr2258LeufsTer9
ENST00000614410.4:c.6772del	ENSP00000479094.1:p.Thr2258LeufsTer9
ENST00000620466.4:n.575del
NM_015120.4:c.6775del , LRG_741t1:c.6775del	NP_055935.4:p.Thr2259LeufsTer9
NM_001378454.1:c.6772del MANE Select	NP_001365383.1:p.Thr2258LeufsTer9