Canonical Allele Identifier: CA2697548299

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2710468
• ClinVar RCV Id: RCV003503720

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601411_73601412delinsAA , CM000664.2:g.73601411_73601412delinsAA	GRCh38
NC_000002.11:g.73828538_73828539delinsAA , CM000664.1:g.73828538_73828539delinsAA	GRCh37
NC_000002.10:g.73682046_73682047delinsAA	NCBI36
NG_011690.1:g.220659_220660delinsAA , LRG_741:g.220659_220660delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11708_11709delinsAA	ENSP00000507671.1:p.Arg3903Lys
ENST00000682801.1:c.11167-774_11167-773delinsAA	ENSP00000507862.1:n.11167-774_11167-773delinsAA
ENST00000682859.1:c.11708_11709delinsAA	ENSP00000508222.1:p.Arg3903Lys
ENST00000683791.1:c.4794_4795delinsAA
ENST00000684460.1:c.8989_8990delinsAA
ENST00000684548.1:c.11708_11709delinsAA	ENSP00000507421.1:p.Arg3903Lys
ENST00000684590.1:c.6155_6156delinsAA	ENSP00000507376.1:p.Arg2052Lys
ENST00000684656.1:c.9173_9174delinsAA
ENST00000613296.6:c.12089_12090delinsAA MANE Select	ENSP00000482968.1:p.Arg4030Lys
ENST00000651057.1:c.2243_2244delinsAA	ENSP00000498504.1:p.Arg748Lys
ENST00000651434.1:c.3445_3446delinsAA
ENST00000651750.1:c.1260+530_1260+531delinsAA
ENST00000652487.1:c.3260_3261delinsAA
ENST00000464408.3:n.264_265delinsAA
ENST00000484298.5:c.11963_11964delinsAA	ENSP00000478155.1:p.Arg3988Lys
ENST00000613296.4:c.12089_12090delinsAA	ENSP00000482968.1:p.Arg4030Lys
ENST00000620466.4:n.5892_5893delinsAA
NM_015120.4:c.12092_12093delinsAA , LRG_741t1:c.12092_12093delinsAA	NP_055935.4:p.Arg4031Lys
NM_001378454.1:c.12089_12090delinsAA MANE Select	NP_001365383.1:p.Arg4030Lys