Canonical Allele Identifier: CA1260981302

Gene: ALMS1

Linked Data

• dbSNP Id: rs1672942503

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490029dup , CM000664.2:g.73490029dup	GRCh38
NC_000002.11:g.73717156dup , CM000664.1:g.73717156dup	GRCh37
NC_000002.10:g.73570664dup	NCBI36
NG_011690.1:g.109277dup , LRG_741:g.109277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7689dup	ENSP00000507671.1:p.Pro2564ThrfsTer2
ENST00000682801.1:c.7689dup	ENSP00000507862.1:p.Pro2564ThrfsTer2
ENST00000682859.1:c.7689dup	ENSP00000508222.1:p.Pro2564ThrfsTer2
ENST00000683791.1:c.1081dup
ENST00000684460.1:c.5141dup
ENST00000684548.1:c.7689dup	ENSP00000507421.1:p.Pro2564ThrfsTer2
ENST00000684590.1:c.2136dup	ENSP00000507376.1:p.Pro713ThrfsTer2
ENST00000684656.1:c.5141dup
ENST00000613296.6:c.8070dup MANE Select	ENSP00000482968.1:p.Pro2691ThrfsTer2
ENST00000651434.1:c.896-29746dup
ENST00000423048.5:c.2901dup	ENSP00000399833.1:p.Pro968ThrfsTer2
ENST00000484298.5:c.7944dup	ENSP00000478155.1:p.Pro2649ThrfsTer2
ENST00000613296.4:c.8070dup	ENSP00000482968.1:p.Pro2691ThrfsTer2
ENST00000614410.4:c.8070dup	ENSP00000479094.1:p.Pro2691ThrfsTer2
ENST00000620466.4:n.1873dup
NM_015120.4:c.8073dup , LRG_741t1:c.8073dup	NP_055935.4:p.Pro2692ThrfsTer2
NM_001378454.1:c.8070dup MANE Select	NP_001365383.1:p.Pro2691ThrfsTer2