Canonical Allele Identifier: CA2750465616

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490219_73490226del , CM000664.2:g.73490219_73490226del	GRCh38
NC_000002.11:g.73717346_73717353del , CM000664.1:g.73717346_73717353del	GRCh37
NC_000002.10:g.73570854_73570861del	NCBI36
NG_011690.1:g.109467_109474del , LRG_741:g.109467_109474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7879_7886del	ENSP00000507671.1:p.Phe2627ArgfsTer9
ENST00000682801.1:c.7879_7886del	ENSP00000507862.1:p.Phe2627ArgfsTer9
ENST00000682859.1:c.7879_7886del	ENSP00000508222.1:p.Phe2627ArgfsTer9
ENST00000683791.1:c.1271_1278del
ENST00000684460.1:c.5331_5338del
ENST00000684548.1:c.7879_7886del	ENSP00000507421.1:p.Phe2627ArgfsTer9
ENST00000684590.1:c.2326_2333del	ENSP00000507376.1:p.Phe776ArgfsTer9
ENST00000684656.1:c.5331_5338del
ENST00000613296.6:c.8260_8267del MANE Select	ENSP00000482968.1:p.Phe2754ArgfsTer9
ENST00000651434.1:c.896-29556_896-29549del
ENST00000423048.5:c.3030+61_3030+68del	ENSP00000399833.1:n.3030+61_3030+68del
ENST00000484298.5:c.8134_8141del	ENSP00000478155.1:p.Phe2712ArgfsTer9
ENST00000613296.4:c.8260_8267del	ENSP00000482968.1:p.Phe2754ArgfsTer9
ENST00000614410.4:c.8260_8267del	ENSP00000479094.1:p.Phe2754ArgfsTer9
ENST00000620466.4:n.2063_2070del
NM_015120.4:c.8263_8270del , LRG_741t1:c.8263_8270del	NP_055935.4:p.Phe2755ArgfsTer9
NM_001378454.1:c.8260_8267del MANE Select	NP_001365383.1:p.Phe2754ArgfsTer9