Canonical Allele Identifier: CA2695200830

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2664890
• ClinVar RCV Id: RCV003447864

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572313_73572316del , CM000664.2:g.73572313_73572316del	GRCh38
NC_000002.11:g.73799440_73799443del , CM000664.1:g.73799440_73799443del	GRCh37
NC_000002.10:g.73652948_73652951del	NCBI36
NG_011690.1:g.191561_191564del , LRG_741:g.191561_191564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10055_10058del	ENSP00000507671.1:p.Ser3352Ter
ENST00000682801.1:c.10055_10058del	ENSP00000507862.1:p.Ser3352Ter
ENST00000682859.1:c.10055_10058del	ENSP00000508222.1:p.Ser3352Ter
ENST00000683791.1:c.3141_3144del
ENST00000684460.1:c.7336_7339del
ENST00000684548.1:c.10055_10058del	ENSP00000507421.1:p.Ser3352Ter
ENST00000684590.1:c.4502_4505del	ENSP00000507376.1:p.Ser1501Ter
ENST00000684656.1:c.7381_7384del
ENST00000613296.6:c.10436_10439del MANE Select	ENSP00000482968.1:p.Ser3479Ter
ENST00000651057.1:c.590_593del	ENSP00000498504.1:p.Ser197Ter
ENST00000651434.1:c.1792_1795del
ENST00000652487.1:c.1533_1536del
ENST00000423048.5:c.3927_3930del	ENSP00000399833.1:n.3927_3930del
ENST00000484298.5:c.10310_10313del	ENSP00000478155.1:p.Ser3437Ter
ENST00000613296.4:c.10436_10439del	ENSP00000482968.1:p.Ser3479Ter
ENST00000614410.4:c.10436_10439del	ENSP00000479094.1:p.Ser3479Ter
ENST00000620466.4:n.4239_4242del
NM_015120.4:c.10439_10442del , LRG_741t1:c.10439_10442del	NP_055935.4:p.Ser3480Ter
NM_001378454.1:c.10436_10439del MANE Select	NP_001365383.1:p.Ser3479Ter