Canonical Allele Identifier: CA2586969433

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490265_73490266del , CM000664.2:g.73490265_73490266del	GRCh38
NC_000002.11:g.73717392_73717393del , CM000664.1:g.73717392_73717393del	GRCh37
NC_000002.10:g.73570900_73570901del	NCBI36
NG_011690.1:g.109513_109514del , LRG_741:g.109513_109514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7925_7926del	ENSP00000507671.1:p.Ser2642PhefsTer6
ENST00000682801.1:c.7925_7926del	ENSP00000507862.1:p.Ser2642PhefsTer6
ENST00000682859.1:c.7925_7926del	ENSP00000508222.1:p.Ser2642PhefsTer6
ENST00000683791.1:c.1317_1318del
ENST00000684460.1:c.5377_5378del
ENST00000684548.1:c.7925_7926del	ENSP00000507421.1:p.Ser2642PhefsTer6
ENST00000684590.1:c.2372_2373del	ENSP00000507376.1:p.Ser791PhefsTer6
ENST00000684656.1:c.5377_5378del
ENST00000613296.6:c.8306_8307del MANE Select	ENSP00000482968.1:p.Ser2769PhefsTer6
ENST00000651434.1:c.896-29510_896-29509del
ENST00000423048.5:c.3030+107_3030+108del	ENSP00000399833.1:n.3030+107_3030+108del
ENST00000484298.5:c.8180_8181del	ENSP00000478155.1:p.Ser2727PhefsTer6
ENST00000613296.4:c.8306_8307del	ENSP00000482968.1:p.Ser2769PhefsTer6
ENST00000614410.4:c.8306_8307del	ENSP00000479094.1:p.Ser2769PhefsTer6
ENST00000620466.4:n.2109_2110del
NM_015120.4:c.8309_8310del , LRG_741t1:c.8309_8310del	NP_055935.4:p.Ser2770PhefsTer6
NM_001378454.1:c.8306_8307del MANE Select	NP_001365383.1:p.Ser2769PhefsTer6