Canonical Allele Identifier: CA1261021657

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572702_73572704delinsCAG , CM000664.2:g.73572702_73572704delinsCAG	GRCh38
NC_000002.11:g.73799829_73799831delinsCAG , CM000664.1:g.73799829_73799831delinsCAG	GRCh37
NC_000002.10:g.73653337_73653339delinsCAG	NCBI36
NG_011690.1:g.191950_191952delinsCAG , LRG_741:g.191950_191952delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10444_10446delinsCAG	ENSP00000507671.1:p.Gln3482=
ENST00000682801.1:c.10444_10446delinsCAG	ENSP00000507862.1:p.Gln3482=
ENST00000682859.1:c.10444_10446delinsCAG	ENSP00000508222.1:p.Gln3482=
ENST00000683791.1:c.3530_3532delinsCAG
ENST00000684460.1:c.7725_7727delinsCAG
ENST00000684548.1:c.10444_10446delinsCAG	ENSP00000507421.1:p.Gln3482=
ENST00000684590.1:c.4891_4893delinsCAG	ENSP00000507376.1:p.Gln1631=
ENST00000684656.1:c.7770_7772delinsCAG
ENST00000613296.6:c.10825_10827delinsCAG MANE Select	ENSP00000482968.1:p.Gln3609=
ENST00000651057.1:c.979_981delinsCAG	ENSP00000498504.1:p.Gln327=
ENST00000651434.1:c.2181_2183delinsCAG
ENST00000651750.1:c.213_215delinsCAG
ENST00000652487.1:c.1922_1924delinsCAG
ENST00000423048.5:c.4316_4318delinsCAG	ENSP00000399833.1:n.4316_4318delinsCAG
ENST00000484298.5:c.10699_10701delinsCAG	ENSP00000478155.1:p.Gln3567=
ENST00000613296.4:c.10825_10827delinsCAG	ENSP00000482968.1:p.Gln3609=
ENST00000614410.4:c.10825_10827delinsCAG	ENSP00000479094.1:p.Gln3609=
ENST00000620466.4:n.4628_4630delinsCAG
NM_015120.4:c.10828_10830delinsCAG , LRG_741t1:c.10828_10830delinsCAG	NP_055935.4:p.Gln3610=
NM_001378454.1:c.10825_10827delinsCAG MANE Select	NP_001365383.1:p.Gln3609=