Canonical Allele Identifier: CA2586964958

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572813_73572819del , CM000664.2:g.73572813_73572819del	GRCh38
NC_000002.11:g.73799940_73799946del , CM000664.1:g.73799940_73799946del	GRCh37
NC_000002.10:g.73653448_73653454del	NCBI36
NG_011690.1:g.192061_192067del , LRG_741:g.192061_192067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10555_10561del	ENSP00000507671.1:p.Val3519LysfsTer13
ENST00000682801.1:c.10555_10561del	ENSP00000507862.1:p.Val3519LysfsTer13
ENST00000682859.1:c.10555_10561del	ENSP00000508222.1:p.Val3519LysfsTer13
ENST00000683791.1:c.3641_3647del
ENST00000684460.1:c.7836_7842del
ENST00000684548.1:c.10555_10561del	ENSP00000507421.1:p.Val3519LysfsTer13
ENST00000684590.1:c.5002_5008del	ENSP00000507376.1:p.Val1668LysfsTer13
ENST00000684656.1:c.7881_7887del
ENST00000613296.6:c.10936_10942del MANE Select	ENSP00000482968.1:p.Val3646LysfsTer13
ENST00000651057.1:c.1090_1096del	ENSP00000498504.1:p.Val364LysfsTer13
ENST00000651434.1:c.2292_2298del
ENST00000651750.1:c.324_330del
ENST00000652487.1:c.2033_2039del
ENST00000423048.5:c.4427_4433del	ENSP00000399833.1:n.4427_4433del
ENST00000484298.5:c.10810_10816del	ENSP00000478155.1:p.Val3604LysfsTer13
ENST00000613296.4:c.10936_10942del	ENSP00000482968.1:p.Val3646LysfsTer13
ENST00000614410.4:c.10936_10942del	ENSP00000479094.1:p.Val3646LysfsTer13
ENST00000620466.4:n.4739_4745del
NM_015120.4:c.10939_10945del , LRG_741t1:c.10939_10945del	NP_055935.4:p.Val3647LysfsTer13
NM_001378454.1:c.10936_10942del MANE Select	NP_001365383.1:p.Val3646LysfsTer13