Canonical Allele Identifier: CA2586969422

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489716del , CM000664.2:g.73489716del	GRCh38
NC_000002.11:g.73716843del , CM000664.1:g.73716843del	GRCh37
NC_000002.10:g.73570351del	NCBI36
NG_011690.1:g.108964del , LRG_741:g.108964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7376del	ENSP00000507671.1:p.Cys2459PhefsTer5
ENST00000682801.1:c.7376del	ENSP00000507862.1:p.Cys2459PhefsTer5
ENST00000682859.1:c.7376del	ENSP00000508222.1:p.Cys2459PhefsTer5
ENST00000683791.1:c.768del
ENST00000684460.1:c.4828del
ENST00000684548.1:c.7376del	ENSP00000507421.1:p.Cys2459PhefsTer5
ENST00000684590.1:c.1823del	ENSP00000507376.1:p.Cys608PhefsTer5
ENST00000684656.1:c.4828del
ENST00000613296.6:c.7757del MANE Select	ENSP00000482968.1:p.Cys2586PhefsTer5
ENST00000651434.1:c.896-30059del
ENST00000423048.5:c.2588del	ENSP00000399833.1:p.Cys863PhefsTer5
ENST00000484298.5:c.7631del	ENSP00000478155.1:p.Cys2544PhefsTer5
ENST00000613296.4:c.7757del	ENSP00000482968.1:p.Cys2586PhefsTer5
ENST00000614410.4:c.7757del	ENSP00000479094.1:p.Cys2586PhefsTer5
ENST00000620466.4:n.1560del
NM_015120.4:c.7760del , LRG_741t1:c.7760del	NP_055935.4:p.Cys2587PhefsTer5
NM_001378454.1:c.7757del MANE Select	NP_001365383.1:p.Cys2586PhefsTer5