Canonical Allele Identifier: CA2577005218

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2149301
• ClinVar RCV Id: RCV003065413
• gnomAD v4: 2-73572627-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572630_73572632del , CM000664.2:g.73572630_73572632del	GRCh38
NC_000002.11:g.73799757_73799759del , CM000664.1:g.73799757_73799759del	GRCh37
NC_000002.10:g.73653265_73653267del	NCBI36
NG_011690.1:g.191878_191880del , LRG_741:g.191878_191880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10372_10374del	ENSP00000507671.1:p.Lys3458del
ENST00000682801.1:c.10372_10374del	ENSP00000507862.1:p.Lys3458del
ENST00000682859.1:c.10372_10374del	ENSP00000508222.1:p.Lys3458del
ENST00000683791.1:c.3458_3460del
ENST00000684460.1:c.7653_7655del
ENST00000684548.1:c.10372_10374del	ENSP00000507421.1:p.Lys3458del
ENST00000684590.1:c.4819_4821del	ENSP00000507376.1:p.Lys1607del
ENST00000684656.1:c.7698_7700del
ENST00000613296.6:c.10753_10755del MANE Select	ENSP00000482968.1:p.Lys3585del
ENST00000651057.1:c.907_909del	ENSP00000498504.1:p.Lys303del
ENST00000651434.1:c.2109_2111del
ENST00000651750.1:c.141_143del
ENST00000652487.1:c.1850_1852del
ENST00000423048.5:c.4244_4246del	ENSP00000399833.1:n.4244_4246del
ENST00000484298.5:c.10627_10629del	ENSP00000478155.1:p.Lys3543del
ENST00000613296.4:c.10753_10755del	ENSP00000482968.1:p.Lys3585del
ENST00000614410.4:c.10753_10755del	ENSP00000479094.1:p.Lys3585del
ENST00000620466.4:n.4556_4558del
NM_015120.4:c.10756_10758del , LRG_741t1:c.10756_10758del	NP_055935.4:p.Lys3586del
NM_001378454.1:c.10753_10755del MANE Select	NP_001365383.1:p.Lys3585del