Canonical Allele Identifier: CA2750465612

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489638del , CM000664.2:g.73489638del	GRCh38
NC_000002.11:g.73716765del , CM000664.1:g.73716765del	GRCh37
NC_000002.10:g.73570273del	NCBI36
NG_011690.1:g.108886del , LRG_741:g.108886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7298del	ENSP00000507671.1:p.Leu2433TyrfsTer?
ENST00000682801.1:c.7298del	ENSP00000507862.1:p.Leu2433TyrfsTer?
ENST00000682859.1:c.7298del	ENSP00000508222.1:p.Leu2433TyrfsTer?
ENST00000683791.1:c.690del
ENST00000684460.1:c.4750del
ENST00000684548.1:c.7298del	ENSP00000507421.1:p.Leu2433TyrfsTer?
ENST00000684590.1:c.1745del	ENSP00000507376.1:p.Leu582TyrfsTer?
ENST00000684656.1:c.4750del
ENST00000613296.6:c.7679del MANE Select	ENSP00000482968.1:p.Leu2560TyrfsTer?
ENST00000651434.1:c.896-30137del
ENST00000423048.5:c.2510del	ENSP00000399833.1:p.Leu837TyrfsTer?
ENST00000484298.5:c.7553del	ENSP00000478155.1:p.Leu2518TyrfsTer?
ENST00000613296.4:c.7679del	ENSP00000482968.1:p.Leu2560TyrfsTer?
ENST00000614410.4:c.7679del	ENSP00000479094.1:p.Leu2560TyrfsTer?
ENST00000620466.4:n.1482del
NM_015120.4:c.7682del , LRG_741t1:c.7682del	NP_055935.4:p.Leu2561TyrfsTer?
NM_001378454.1:c.7679del MANE Select	NP_001365383.1:p.Leu2560TyrfsTer?