Canonical Allele Identifier: CA913090802

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717160_73717163del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490035_73490038del , CM000664.2:g.73490035_73490038del	GRCh38
NC_000002.11:g.73717162_73717165del , CM000664.1:g.73717162_73717165del	GRCh37
NC_000002.10:g.73570670_73570673del	NCBI36
NG_011690.1:g.109283_109286del , LRG_741:g.109283_109286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7695_7698del	ENSP00000507671.1:p.Glu2566TrpfsTer15
ENST00000682801.1:c.7695_7698del	ENSP00000507862.1:p.Glu2566TrpfsTer15
ENST00000682859.1:c.7695_7698del	ENSP00000508222.1:p.Glu2566TrpfsTer15
ENST00000683791.1:c.1087_1090del
ENST00000684460.1:c.5147_5150del
ENST00000684548.1:c.7695_7698del	ENSP00000507421.1:p.Glu2566TrpfsTer15
ENST00000684590.1:c.2142_2145del	ENSP00000507376.1:p.Glu715TrpfsTer15
ENST00000684656.1:c.5147_5150del
ENST00000613296.6:c.8076_8079del MANE Select	ENSP00000482968.1:p.Glu2693TrpfsTer15
ENST00000651434.1:c.896-29740_896-29737del
ENST00000423048.5:c.2907_2910del	ENSP00000399833.1:p.Glu970TrpfsTer15
ENST00000484298.5:c.7950_7953del	ENSP00000478155.1:p.Glu2651TrpfsTer15
ENST00000613296.4:c.8076_8079del	ENSP00000482968.1:p.Glu2693TrpfsTer15
ENST00000614410.4:c.8076_8079del	ENSP00000479094.1:p.Glu2693TrpfsTer15
ENST00000620466.4:n.1879_1882del
NM_015120.4:c.8079_8082del , LRG_741t1:c.8079_8082del	NP_055935.4:p.Glu2694TrpfsTer15
NM_001378454.1:c.8076_8079del MANE Select	NP_001365383.1:p.Glu2693TrpfsTer15