Canonical Allele Identifier: CA913090805

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717224_73717232del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490098_73490106del , CM000664.2:g.73490098_73490106del	GRCh38
NC_000002.11:g.73717225_73717233del , CM000664.1:g.73717225_73717233del	GRCh37
NC_000002.10:g.73570733_73570741del	NCBI36
NG_011690.1:g.109346_109354del , LRG_741:g.109346_109354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7758_7766del	ENSP00000507671.1:p.Ser2587_Thr2589del
ENST00000682801.1:c.7758_7766del	ENSP00000507862.1:p.Ser2587_Thr2589del
ENST00000682859.1:c.7758_7766del	ENSP00000508222.1:p.Ser2587_Thr2589del
ENST00000683791.1:c.1150_1158del
ENST00000684460.1:c.5210_5218del
ENST00000684548.1:c.7758_7766del	ENSP00000507421.1:p.Ser2587_Thr2589del
ENST00000684590.1:c.2205_2213del	ENSP00000507376.1:p.Ser736_Thr738del
ENST00000684656.1:c.5210_5218del
ENST00000613296.6:c.8139_8147del MANE Select	ENSP00000482968.1:p.Ser2714_Thr2716del
ENST00000651434.1:c.896-29677_896-29669del
ENST00000423048.5:c.2970_2978del	ENSP00000399833.1:p.Ser991_Thr993del
ENST00000484298.5:c.8013_8021del	ENSP00000478155.1:p.Ser2672_Thr2674del
ENST00000613296.4:c.8139_8147del	ENSP00000482968.1:p.Ser2714_Thr2716del
ENST00000614410.4:c.8139_8147del	ENSP00000479094.1:p.Ser2714_Thr2716del
ENST00000620466.4:n.1942_1950del
NM_015120.4:c.8142_8150del , LRG_741t1:c.8142_8150del	NP_055935.4:p.Ser2715_Thr2717del
NM_001378454.1:c.8139_8147del MANE Select	NP_001365383.1:p.Ser2714_Thr2716del