Canonical Allele Identifier: CA2659617211

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572715-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572716del , CM000664.2:g.73572716del	GRCh38
NC_000002.11:g.73799843del , CM000664.1:g.73799843del	GRCh37
NC_000002.10:g.73653351del	NCBI36
NG_011690.1:g.191964del , LRG_741:g.191964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10458del	ENSP00000507671.1:p.Arg3486SerfsTer?
ENST00000682801.1:c.10458del	ENSP00000507862.1:p.Arg3486SerfsTer?
ENST00000682859.1:c.10458del	ENSP00000508222.1:p.Arg3486SerfsTer?
ENST00000683791.1:c.3544del
ENST00000684460.1:c.7739del
ENST00000684548.1:c.10458del	ENSP00000507421.1:p.Arg3486SerfsTer?
ENST00000684590.1:c.4905del	ENSP00000507376.1:p.Arg1635SerfsTer?
ENST00000684656.1:c.7784del
ENST00000613296.6:c.10839del MANE Select	ENSP00000482968.1:p.Arg3613SerfsTer?
ENST00000651057.1:c.993del	ENSP00000498504.1:p.Arg331SerfsTer?
ENST00000651434.1:c.2195del
ENST00000651750.1:c.227del
ENST00000652487.1:c.1936del
ENST00000423048.5:c.4330del	ENSP00000399833.1:n.4330del
ENST00000484298.5:c.10713del	ENSP00000478155.1:p.Arg3571SerfsTer?
ENST00000613296.4:c.10839del	ENSP00000482968.1:p.Arg3613SerfsTer?
ENST00000614410.4:c.10839del	ENSP00000479094.1:p.Arg3613SerfsTer?
ENST00000620466.4:n.4642del
NM_015120.4:c.10842del , LRG_741t1:c.10842del	NP_055935.4:p.Arg3614SerfsTer?
NM_001378454.1:c.10839del MANE Select	NP_001365383.1:p.Arg3613SerfsTer?