Canonical Allele Identifier: CA2586964960

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572876del , CM000664.2:g.73572876del	GRCh38
NC_000002.11:g.73800003del , CM000664.1:g.73800003del	GRCh37
NC_000002.10:g.73653511del	NCBI36
NG_011690.1:g.192124del , LRG_741:g.192124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10618del	ENSP00000507671.1:p.Gln3540AsnfsTer16
ENST00000682801.1:c.10618del	ENSP00000507862.1:p.Gln3540AsnfsTer16
ENST00000682859.1:c.10618del	ENSP00000508222.1:p.Gln3540AsnfsTer16
ENST00000683791.1:c.3704del
ENST00000684460.1:c.7899del
ENST00000684548.1:c.10618del	ENSP00000507421.1:p.Gln3540AsnfsTer16
ENST00000684590.1:c.5065del	ENSP00000507376.1:p.Gln1689AsnfsTer16
ENST00000684656.1:c.7944del
ENST00000613296.6:c.10999del MANE Select	ENSP00000482968.1:p.Gln3667AsnfsTer16
ENST00000651057.1:c.1153del	ENSP00000498504.1:p.Gln385AsnfsTer16
ENST00000651434.1:c.2355del
ENST00000651750.1:c.387del
ENST00000652487.1:c.2096del
ENST00000423048.5:c.4490del	ENSP00000399833.1:n.4490del
ENST00000484298.5:c.10873del	ENSP00000478155.1:p.Gln3625AsnfsTer16
ENST00000613296.4:c.10999del	ENSP00000482968.1:p.Gln3667AsnfsTer16
ENST00000614410.4:c.10999del	ENSP00000479094.1:p.Gln3667AsnfsTer16
ENST00000620466.4:n.4802del
NM_015120.4:c.11002del , LRG_741t1:c.11002del	NP_055935.4:p.Gln3668AsnfsTer16
NM_001378454.1:c.10999del MANE Select	NP_001365383.1:p.Gln3667AsnfsTer16