Canonical Allele Identifier: CA2586964962

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572889del , CM000664.2:g.73572889del	GRCh38
NC_000002.11:g.73800016del , CM000664.1:g.73800016del	GRCh37
NC_000002.10:g.73653524del	NCBI36
NG_011690.1:g.192137del , LRG_741:g.192137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10631del	ENSP00000507671.1:p.Asn3544IlefsTer12
ENST00000682801.1:c.10631del	ENSP00000507862.1:p.Asn3544IlefsTer12
ENST00000682859.1:c.10631del	ENSP00000508222.1:p.Asn3544IlefsTer12
ENST00000683791.1:c.3717del
ENST00000684460.1:c.7912del
ENST00000684548.1:c.10631del	ENSP00000507421.1:p.Asn3544IlefsTer12
ENST00000684590.1:c.5078del	ENSP00000507376.1:p.Asn1693IlefsTer12
ENST00000684656.1:c.7957del
ENST00000613296.6:c.11012del MANE Select	ENSP00000482968.1:p.Asn3671IlefsTer12
ENST00000651057.1:c.1166del	ENSP00000498504.1:p.Asn389IlefsTer12
ENST00000651434.1:c.2368del
ENST00000651750.1:c.400del
ENST00000652487.1:c.2109del
ENST00000423048.5:c.4503del	ENSP00000399833.1:n.4503del
ENST00000484298.5:c.10886del	ENSP00000478155.1:p.Asn3629IlefsTer12
ENST00000613296.4:c.11012del	ENSP00000482968.1:p.Asn3671IlefsTer12
ENST00000614410.4:c.11012del	ENSP00000479094.1:p.Asn3671IlefsTer12
ENST00000620466.4:n.4815del
NM_015120.4:c.11015del , LRG_741t1:c.11015del	NP_055935.4:p.Asn3672IlefsTer12
NM_001378454.1:c.11012del MANE Select	NP_001365383.1:p.Asn3671IlefsTer12