Canonical Allele Identifier: CA2580611329

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1691057
• ClinVar RCV Id: RCV002252649
• dbSNP Id: rs2104104246

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572447_73572448del , CM000664.2:g.73572447_73572448del	GRCh38
NC_000002.11:g.73799574_73799575del , CM000664.1:g.73799574_73799575del	GRCh37
NC_000002.10:g.73653082_73653083del	NCBI36
NG_011690.1:g.191695_191696del , LRG_741:g.191695_191696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10189_10190del	ENSP00000507671.1:p.Glu3397ThrfsTer15
ENST00000682801.1:c.10189_10190del	ENSP00000507862.1:p.Glu3397ThrfsTer15
ENST00000682859.1:c.10189_10190del	ENSP00000508222.1:p.Glu3397ThrfsTer15
ENST00000683791.1:c.3275_3276del
ENST00000684460.1:c.7470_7471del
ENST00000684548.1:c.10189_10190del	ENSP00000507421.1:p.Glu3397ThrfsTer15
ENST00000684590.1:c.4636_4637del	ENSP00000507376.1:p.Glu1546ThrfsTer15
ENST00000684656.1:c.7515_7516del
ENST00000613296.6:c.10570_10571del MANE Select	ENSP00000482968.1:p.Glu3524ThrfsTer15
ENST00000651057.1:c.724_725del	ENSP00000498504.1:p.Glu242ThrfsTer15
ENST00000651434.1:c.1926_1927del
ENST00000652487.1:c.1667_1668del
ENST00000423048.5:c.4061_4062del	ENSP00000399833.1:n.4061_4062del
ENST00000484298.5:c.10444_10445del	ENSP00000478155.1:p.Glu3482ThrfsTer15
ENST00000613296.4:c.10570_10571del	ENSP00000482968.1:p.Glu3524ThrfsTer15
ENST00000614410.4:c.10570_10571del	ENSP00000479094.1:p.Glu3524ThrfsTer15
ENST00000620466.4:n.4373_4374del
NM_015120.4:c.10573_10574del , LRG_741t1:c.10573_10574del	NP_055935.4:p.Glu3525ThrfsTer15
NM_001378454.1:c.10570_10571del MANE Select	NP_001365383.1:p.Glu3524ThrfsTer15