Canonical Allele Identifier: CA1260981103

Gene: ALMS1

Linked Data

• dbSNP Id: rs1672932160

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489683del , CM000664.2:g.73489683del	GRCh38
NC_000002.11:g.73716810del , CM000664.1:g.73716810del	GRCh37
NC_000002.10:g.73570318del	NCBI36
NG_011690.1:g.108931del , LRG_741:g.108931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7343del	ENSP00000507671.1:p.Ser2448IlefsTer16
ENST00000682801.1:c.7343del	ENSP00000507862.1:p.Ser2448IlefsTer16
ENST00000682859.1:c.7343del	ENSP00000508222.1:p.Ser2448IlefsTer16
ENST00000683791.1:c.735del
ENST00000684460.1:c.4795del
ENST00000684548.1:c.7343del	ENSP00000507421.1:p.Ser2448IlefsTer16
ENST00000684590.1:c.1790del	ENSP00000507376.1:p.Ser597IlefsTer16
ENST00000684656.1:c.4795del
ENST00000613296.6:c.7724del MANE Select	ENSP00000482968.1:p.Ser2575IlefsTer16
ENST00000651434.1:c.896-30092del
ENST00000423048.5:c.2555del	ENSP00000399833.1:p.Ser852IlefsTer16
ENST00000484298.5:c.7598del	ENSP00000478155.1:p.Ser2533IlefsTer16
ENST00000613296.4:c.7724del	ENSP00000482968.1:p.Ser2575IlefsTer16
ENST00000614410.4:c.7724del	ENSP00000479094.1:p.Ser2575IlefsTer16
ENST00000620466.4:n.1527del
NM_015120.4:c.7727del , LRG_741t1:c.7727del	NP_055935.4:p.Ser2576IlefsTer16
NM_001378454.1:c.7724del MANE Select	NP_001365383.1:p.Ser2575IlefsTer16