Canonical Allele Identifier: CA1715066

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 552413
• ClinVar RCV Id: RCV000667663
• dbSNP Id: rs755616266
• ExAC: 2:73799829 CAG / C
• gnomAD v2: 2-73799829-CAG-C
• gnomAD v3: 2-73572702-CAG-C
• gnomAD v4: 2-73572702-CAG-C
• MyVariant Identifiers: chr2:g.73799830_73799831del (hg19) ; chr2:g.73572705_73572706del (hg38) ; chr2:g.73572703_73572704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572705_73572706del , CM000664.2:g.73572705_73572706del	GRCh38
NC_000002.11:g.73799832_73799833del , CM000664.1:g.73799832_73799833del	GRCh37
NC_000002.10:g.73653340_73653341del	NCBI36
NG_011690.1:g.191953_191954del , LRG_741:g.191953_191954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10447_10448del	ENSP00000507671.1:p.Arg3483AlafsTer6
ENST00000682801.1:c.10447_10448del	ENSP00000507862.1:p.Arg3483AlafsTer6
ENST00000682859.1:c.10447_10448del	ENSP00000508222.1:p.Arg3483AlafsTer6
ENST00000683791.1:c.3533_3534del
ENST00000684460.1:c.7728_7729del
ENST00000684548.1:c.10447_10448del	ENSP00000507421.1:p.Arg3483AlafsTer6
ENST00000684590.1:c.4894_4895del	ENSP00000507376.1:p.Arg1632AlafsTer6
ENST00000684656.1:c.7773_7774del
ENST00000613296.6:c.10828_10829del MANE Select	ENSP00000482968.1:p.Arg3610AlafsTer6
ENST00000651057.1:c.982_983del	ENSP00000498504.1:p.Arg328AlafsTer6
ENST00000651434.1:c.2184_2185del
ENST00000651750.1:c.216_217del
ENST00000652487.1:c.1925_1926del
ENST00000423048.5:c.4319_4320del	ENSP00000399833.1:n.4319_4320del
ENST00000484298.5:c.10702_10703del	ENSP00000478155.1:p.Arg3568AlafsTer6
ENST00000613296.4:c.10828_10829del	ENSP00000482968.1:p.Arg3610AlafsTer6
ENST00000614410.4:c.10828_10829del	ENSP00000479094.1:p.Arg3610AlafsTer6
ENST00000620466.4:n.4631_4632del
NM_015120.4:c.10831_10832del , LRG_741t1:c.10831_10832del	NP_055935.4:p.Arg3611AlafsTer6
NM_001378454.1:c.10828_10829del MANE Select	NP_001365383.1:p.Arg3610AlafsTer6