Canonical Allele Identifier: CA913090801

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717082dup (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7617dup	ENSP00000507671.1:p.Gly2540ArgfsTer8
ENST00000682801.1:c.7617dup	ENSP00000507862.1:p.Gly2540ArgfsTer8
ENST00000682859.1:c.7617dup	ENSP00000508222.1:p.Gly2540ArgfsTer8
ENST00000683791.1:c.1009dup
ENST00000684460.1:c.5069dup
ENST00000684548.1:c.7617dup	ENSP00000507421.1:p.Gly2540ArgfsTer8
ENST00000684590.1:c.2064dup	ENSP00000507376.1:p.Gly689ArgfsTer8
ENST00000684656.1:c.5069dup
ENST00000613296.6:c.7998dup MANE Select	ENSP00000482968.1:p.Gly2667ArgfsTer8
ENST00000651434.1:c.896-29818dup
ENST00000423048.5:c.2829dup	ENSP00000399833.1:p.Gly944ArgfsTer8
ENST00000484298.5:c.7872dup	ENSP00000478155.1:p.Gly2625ArgfsTer8
ENST00000613296.4:c.7998dup	ENSP00000482968.1:p.Gly2667ArgfsTer8
ENST00000614410.4:c.7998dup	ENSP00000479094.1:p.Gly2667ArgfsTer8
ENST00000620466.4:n.1801dup
NM_015120.4:c.8001dup , LRG_741t1:c.8001dup	NP_055935.4:p.Gly2668ArgfsTer8
NM_001378454.1:c.7998dup MANE Select	NP_001365383.1:p.Gly2667ArgfsTer8