Canonical Allele Identifier: CA2586964936

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572345del , CM000664.2:g.73572345del	GRCh38
NC_000002.11:g.73799472del , CM000664.1:g.73799472del	GRCh37
NC_000002.10:g.73652980del	NCBI36
NG_011690.1:g.191593del , LRG_741:g.191593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10087del	ENSP00000507671.1:p.Leu3363TyrfsTer18
ENST00000682801.1:c.10087del	ENSP00000507862.1:p.Leu3363TyrfsTer18
ENST00000682859.1:c.10087del	ENSP00000508222.1:p.Leu3363TyrfsTer18
ENST00000683791.1:c.3173del
ENST00000684460.1:c.7368del
ENST00000684548.1:c.10087del	ENSP00000507421.1:p.Leu3363TyrfsTer18
ENST00000684590.1:c.4534del	ENSP00000507376.1:p.Leu1512TyrfsTer18
ENST00000684656.1:c.7413del
ENST00000613296.6:c.10468del MANE Select	ENSP00000482968.1:p.Leu3490TyrfsTer18
ENST00000651057.1:c.622del	ENSP00000498504.1:p.Leu208TyrfsTer18
ENST00000651434.1:c.1824del
ENST00000652487.1:c.1565del
ENST00000423048.5:c.3959del	ENSP00000399833.1:n.3959del
ENST00000484298.5:c.10342del	ENSP00000478155.1:p.Leu3448TyrfsTer18
ENST00000613296.4:c.10468del	ENSP00000482968.1:p.Leu3490TyrfsTer18
ENST00000614410.4:c.10468del	ENSP00000479094.1:p.Leu3490TyrfsTer18
ENST00000620466.4:n.4271del
NM_015120.4:c.10471del , LRG_741t1:c.10471del	NP_055935.4:p.Leu3491TyrfsTer18
NM_001378454.1:c.10468del MANE Select	NP_001365383.1:p.Leu3490TyrfsTer18