Canonical Allele Identifier: CA1261021209

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572452_73572454delinsCAT , CM000664.2:g.73572452_73572454delinsCAT	GRCh38
NC_000002.11:g.73799579_73799581delinsCAT , CM000664.1:g.73799579_73799581delinsCAT	GRCh37
NC_000002.10:g.73653087_73653089delinsCAT	NCBI36
NG_011690.1:g.191700_191702delinsCAT , LRG_741:g.191700_191702delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10194_10196delinsCAT	ENSP00000507671.1:p.His3398=
ENST00000682801.1:c.10194_10196delinsCAT	ENSP00000507862.1:p.His3398=
ENST00000682859.1:c.10194_10196delinsCAT	ENSP00000508222.1:p.His3398=
ENST00000683791.1:c.3280_3282delinsCAT
ENST00000684460.1:c.7475_7477delinsCAT
ENST00000684548.1:c.10194_10196delinsCAT	ENSP00000507421.1:p.His3398=
ENST00000684590.1:c.4641_4643delinsCAT	ENSP00000507376.1:p.His1547=
ENST00000684656.1:c.7520_7522delinsCAT
ENST00000613296.6:c.10575_10577delinsCAT MANE Select	ENSP00000482968.1:p.His3525=
ENST00000651057.1:c.729_731delinsCAT	ENSP00000498504.1:p.His243=
ENST00000651434.1:c.1931_1933delinsCAT
ENST00000652487.1:c.1672_1674delinsCAT
ENST00000423048.5:c.4066_4068delinsCAT	ENSP00000399833.1:n.4066_4068delinsCAT
ENST00000484298.5:c.10449_10451delinsCAT	ENSP00000478155.1:p.His3483=
ENST00000613296.4:c.10575_10577delinsCAT	ENSP00000482968.1:p.His3525=
ENST00000614410.4:c.10575_10577delinsCAT	ENSP00000479094.1:p.His3525=
ENST00000620466.4:n.4378_4380delinsCAT
NM_015120.4:c.10578_10580delinsCAT , LRG_741t1:c.10578_10580delinsCAT	NP_055935.4:p.His3526=
NM_001378454.1:c.10575_10577delinsCAT MANE Select	NP_001365383.1:p.His3525=