Canonical Allele Identifier: CA2750469792

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601434del , CM000664.2:g.73601434del	GRCh38
NC_000002.11:g.73828561del , CM000664.1:g.73828561del	GRCh37
NC_000002.10:g.73682069del	NCBI36
NG_011690.1:g.220682del , LRG_741:g.220682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11731del	ENSP00000507671.1:p.Gln3911ArgfsTer19
ENST00000682801.1:c.11167-751del	ENSP00000507862.1:n.11167-751del
ENST00000682859.1:c.11731del	ENSP00000508222.1:p.Gln3911ArgfsTer19
ENST00000683791.1:c.4817del
ENST00000684460.1:c.9012del
ENST00000684548.1:c.11731del	ENSP00000507421.1:p.Gln3911ArgfsTer19
ENST00000684590.1:c.6178del	ENSP00000507376.1:p.Gln2060ArgfsTer19
ENST00000684656.1:c.9196del
ENST00000613296.6:c.12112del MANE Select	ENSP00000482968.1:p.Gln4038ArgfsTer19
ENST00000651057.1:c.2266del	ENSP00000498504.1:p.Gln756ArgfsTer19
ENST00000651434.1:c.3468del
ENST00000651750.1:c.1260+553del
ENST00000652487.1:c.3283del
ENST00000464408.3:n.287del
ENST00000484298.5:c.11986del	ENSP00000478155.1:p.Gln3996ArgfsTer19
ENST00000613296.4:c.12112del	ENSP00000482968.1:p.Gln4038ArgfsTer19
ENST00000620466.4:n.5915del
NM_015120.4:c.12115del , LRG_741t1:c.12115del	NP_055935.4:p.Gln4039ArgfsTer19
NM_001378454.1:c.12112del MANE Select	NP_001365383.1:p.Gln4038ArgfsTer19