Canonical Allele Identifier: CA1261021192

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572441_73572443delinsCAT , CM000664.2:g.73572441_73572443delinsCAT	GRCh38
NC_000002.11:g.73799568_73799570delinsCAT , CM000664.1:g.73799568_73799570delinsCAT	GRCh37
NC_000002.10:g.73653076_73653078delinsCAT	NCBI36
NG_011690.1:g.191689_191691delinsCAT , LRG_741:g.191689_191691delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10183_10185delinsCAT	ENSP00000507671.1:p.His3395=
ENST00000682801.1:c.10183_10185delinsCAT	ENSP00000507862.1:p.His3395=
ENST00000682859.1:c.10183_10185delinsCAT	ENSP00000508222.1:p.His3395=
ENST00000683791.1:c.3269_3271delinsCAT
ENST00000684460.1:c.7464_7466delinsCAT
ENST00000684548.1:c.10183_10185delinsCAT	ENSP00000507421.1:p.His3395=
ENST00000684590.1:c.4630_4632delinsCAT	ENSP00000507376.1:p.His1544=
ENST00000684656.1:c.7509_7511delinsCAT
ENST00000613296.6:c.10564_10566delinsCAT MANE Select	ENSP00000482968.1:p.His3522=
ENST00000651057.1:c.718_720delinsCAT	ENSP00000498504.1:p.His240=
ENST00000651434.1:c.1920_1922delinsCAT
ENST00000652487.1:c.1661_1663delinsCAT
ENST00000423048.5:c.4055_4057delinsCAT	ENSP00000399833.1:n.4055_4057delinsCAT
ENST00000484298.5:c.10438_10440delinsCAT	ENSP00000478155.1:p.His3480=
ENST00000613296.4:c.10564_10566delinsCAT	ENSP00000482968.1:p.His3522=
ENST00000614410.4:c.10564_10566delinsCAT	ENSP00000479094.1:p.His3522=
ENST00000620466.4:n.4367_4369delinsCAT
NM_015120.4:c.10567_10569delinsCAT , LRG_741t1:c.10567_10569delinsCAT	NP_055935.4:p.His3523=
NM_001378454.1:c.10564_10566delinsCAT MANE Select	NP_001365383.1:p.His3522=