Canonical Allele Identifier: CA501086

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572541del , CM000664.2:g.73572541del	GRCh38
NC_000002.11:g.73799668del , CM000664.1:g.73799668del	GRCh37
NC_000002.10:g.73653176del	NCBI36
NG_011690.1:g.191789del , LRG_741:g.191789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10283del	ENSP00000507671.1:p.Gly3428GlufsTer5
ENST00000682801.1:c.10283del	ENSP00000507862.1:p.Gly3428GlufsTer5
ENST00000682859.1:c.10283del	ENSP00000508222.1:p.Gly3428GlufsTer5
ENST00000683791.1:c.3369del
ENST00000684460.1:c.7564del
ENST00000684548.1:c.10283del	ENSP00000507421.1:p.Gly3428GlufsTer5
ENST00000684590.1:c.4730del	ENSP00000507376.1:p.Gly1577GlufsTer5
ENST00000684656.1:c.7609del
ENST00000613296.6:c.10664del MANE Select	ENSP00000482968.1:p.Gly3555GlufsTer5
ENST00000651057.1:c.818del	ENSP00000498504.1:p.Gly273GlufsTer5
ENST00000651434.1:c.2020del
ENST00000651750.1:c.52del
ENST00000652487.1:c.1761del
ENST00000423048.5:c.4155del	ENSP00000399833.1:n.4155del
ENST00000484298.5:c.10538del	ENSP00000478155.1:p.Gly3513GlufsTer5
ENST00000613296.4:c.10664del	ENSP00000482968.1:p.Gly3555GlufsTer5
ENST00000614410.4:c.10664del	ENSP00000479094.1:p.Gly3555GlufsTer5
ENST00000620466.4:n.4467del
NM_015120.4:c.10667del , LRG_741t1:c.10667del	NP_055935.4:p.Gly3556GlufsTer5
NM_001378454.1:c.10664del MANE Select	NP_001365383.1:p.Gly3555GlufsTer5