Canonical Allele Identifier: CA658821972

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 552861
• ClinVar RCV Id: RCV000668201
• dbSNP Id: rs1553409656
• MyVariant Identifiers: chr2:g.73489957_73489972dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489957_73489972dup , CM000664.2:g.73489957_73489972dup	GRCh38
NC_000002.11:g.73717084_73717099dup , CM000664.1:g.73717084_73717099dup	GRCh37
NC_000002.10:g.73570592_73570607dup	NCBI36
NG_011690.1:g.109205_109220dup , LRG_741:g.109205_109220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7617_7632dup	ENSP00000507671.1:p.Phe2545ArgfsTer8
ENST00000682801.1:c.7617_7632dup	ENSP00000507862.1:p.Phe2545ArgfsTer8
ENST00000682859.1:c.7617_7632dup	ENSP00000508222.1:p.Phe2545ArgfsTer8
ENST00000683791.1:c.1009_1024dup
ENST00000684460.1:c.5069_5084dup
ENST00000684548.1:c.7617_7632dup	ENSP00000507421.1:p.Phe2545ArgfsTer8
ENST00000684590.1:c.2064_2079dup	ENSP00000507376.1:p.Phe694ArgfsTer8
ENST00000684656.1:c.5069_5084dup
ENST00000613296.6:c.7998_8013dup MANE Select	ENSP00000482968.1:p.Phe2672ArgfsTer8
ENST00000651434.1:c.896-29818_896-29803dup
ENST00000423048.5:c.2829_2844dup	ENSP00000399833.1:p.Phe949ArgfsTer8
ENST00000484298.5:c.7872_7887dup	ENSP00000478155.1:p.Phe2630ArgfsTer8
ENST00000613296.4:c.7998_8013dup	ENSP00000482968.1:p.Phe2672ArgfsTer8
ENST00000614410.4:c.7998_8013dup	ENSP00000479094.1:p.Phe2672ArgfsTer8
ENST00000620466.4:n.1801_1816dup
NM_015120.4:c.8001_8016dup , LRG_741t1:c.8001_8016dup	NP_055935.4:p.Phe2673ArgfsTer8
NM_001378454.1:c.7998_8013dup MANE Select	NP_001365383.1:p.Phe2672ArgfsTer8