Canonical Allele Identifier: CA913090807

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717399_73717402del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490273_73490276del , CM000664.2:g.73490273_73490276del	GRCh38
NC_000002.11:g.73717400_73717403del , CM000664.1:g.73717400_73717403del	GRCh37
NC_000002.10:g.73570908_73570911del	NCBI36
NG_011690.1:g.109521_109524del , LRG_741:g.109521_109524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7933_7936del	ENSP00000507671.1:p.Ser2645HisfsTer13
ENST00000682801.1:c.7933_7936del	ENSP00000507862.1:p.Ser2645HisfsTer13
ENST00000682859.1:c.7933_7936del	ENSP00000508222.1:p.Ser2645HisfsTer13
ENST00000683791.1:c.1325_1328del
ENST00000684460.1:c.5385_5388del
ENST00000684548.1:c.7933_7936del	ENSP00000507421.1:p.Ser2645HisfsTer13
ENST00000684590.1:c.2380_2383del	ENSP00000507376.1:p.Ser794HisfsTer13
ENST00000684656.1:c.5385_5388del
ENST00000613296.6:c.8314_8317del MANE Select	ENSP00000482968.1:p.Ser2772HisfsTer13
ENST00000651434.1:c.896-29502_896-29499del
ENST00000423048.5:c.3030+115_3030+118del	ENSP00000399833.1:n.3030+115_3030+118del
ENST00000484298.5:c.8188_8191del	ENSP00000478155.1:p.Ser2730HisfsTer13
ENST00000613296.4:c.8314_8317del	ENSP00000482968.1:p.Ser2772HisfsTer13
ENST00000614410.4:c.8314_8317del	ENSP00000479094.1:p.Ser2772HisfsTer13
ENST00000620466.4:n.2117_2120del
NM_015120.4:c.8317_8320del , LRG_741t1:c.8317_8320del	NP_055935.4:p.Ser2773HisfsTer13
NM_001378454.1:c.8314_8317del MANE Select	NP_001365383.1:p.Ser2772HisfsTer13