Canonical Allele Identifier: CA658822846

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 554940
• ClinVar RCV Id: RCV000670664
• dbSNP Id: rs1553421752
• gnomAD v4: 2-73601425-GCA-G
• MyVariant Identifiers: chr2:g.73601426_73601427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601426_73601427del , CM000664.2:g.73601426_73601427del	GRCh38
NC_000002.11:g.73828553_73828554del , CM000664.1:g.73828553_73828554del	GRCh37
NC_000002.10:g.73682061_73682062del	NCBI36
NG_011690.1:g.220674_220675del , LRG_741:g.220674_220675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11723_11724del	ENSP00000507671.1:p.Ala3908AspfsTer12
ENST00000682801.1:c.11167-759_11167-758del	ENSP00000507862.1:n.11167-759_11167-758del
ENST00000682859.1:c.11723_11724del	ENSP00000508222.1:p.Ala3908AspfsTer12
ENST00000683791.1:c.4809_4810del
ENST00000684460.1:c.9004_9005del
ENST00000684548.1:c.11723_11724del	ENSP00000507421.1:p.Ala3908AspfsTer12
ENST00000684590.1:c.6170_6171del	ENSP00000507376.1:p.Ala2057AspfsTer12
ENST00000684656.1:c.9188_9189del
ENST00000613296.6:c.12104_12105del MANE Select	ENSP00000482968.1:p.Ala4035AspfsTer12
ENST00000651057.1:c.2258_2259del	ENSP00000498504.1:p.Ala753AspfsTer12
ENST00000651434.1:c.3460_3461del
ENST00000651750.1:c.1260+545_1260+546del
ENST00000652487.1:c.3275_3276del
ENST00000464408.3:n.279_280del
ENST00000484298.5:c.11978_11979del	ENSP00000478155.1:p.Ala3993AspfsTer12
ENST00000613296.4:c.12104_12105del	ENSP00000482968.1:p.Ala4035AspfsTer12
ENST00000620466.4:n.5907_5908del
NM_015120.4:c.12107_12108del , LRG_741t1:c.12107_12108del	NP_055935.4:p.Ala4036AspfsTer12
NM_001378454.1:c.12104_12105del MANE Select	NP_001365383.1:p.Ala4035AspfsTer12