Canonical Allele Identifier: CA1261022100

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674969901

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572906_73572908del , CM000664.2:g.73572906_73572908del	GRCh38
NC_000002.11:g.73800033_73800035del , CM000664.1:g.73800033_73800035del	GRCh37
NC_000002.10:g.73653541_73653543del	NCBI36
NG_011690.1:g.192154_192156del , LRG_741:g.192154_192156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10648_10650del	ENSP00000507671.1:p.Lys3550del
ENST00000682801.1:c.10648_10650del	ENSP00000507862.1:p.Lys3550del
ENST00000682859.1:c.10648_10650del	ENSP00000508222.1:p.Lys3550del
ENST00000683791.1:c.3734_3736del
ENST00000684460.1:c.7929_7931del
ENST00000684548.1:c.10648_10650del	ENSP00000507421.1:p.Lys3550del
ENST00000684590.1:c.5095_5097del	ENSP00000507376.1:p.Lys1699del
ENST00000684656.1:c.7974_7976del
ENST00000613296.6:c.11029_11031del MANE Select	ENSP00000482968.1:p.Lys3677del
ENST00000651057.1:c.1183_1185del	ENSP00000498504.1:p.Lys395del
ENST00000651434.1:c.2385_2387del
ENST00000651750.1:c.417_419del
ENST00000652487.1:c.2126_2128del
ENST00000423048.5:c.4520_4522del	ENSP00000399833.1:n.4520_4522del
ENST00000484298.5:c.10903_10905del	ENSP00000478155.1:p.Lys3635del
ENST00000613296.4:c.11029_11031del	ENSP00000482968.1:p.Lys3677del
ENST00000614410.4:c.11029_11031del	ENSP00000479094.1:p.Lys3677del
ENST00000620466.4:n.4832_4834del
NM_015120.4:c.11032_11034del , LRG_741t1:c.11032_11034del	NP_055935.4:p.Lys3678del
NM_001378454.1:c.11029_11031del MANE Select	NP_001365383.1:p.Lys3677del