Canonical Allele Identifier: CA2586969572

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601353del , CM000664.2:g.73601353del	GRCh38
NC_000002.11:g.73828480del , CM000664.1:g.73828480del	GRCh37
NC_000002.10:g.73681988del	NCBI36
NG_011690.1:g.220601del , LRG_741:g.220601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11650del	ENSP00000507671.1:p.Leu3884TrpfsTer19
ENST00000682801.1:c.11167-832del	ENSP00000507862.1:n.11167-832del
ENST00000682859.1:c.11650del	ENSP00000508222.1:p.Leu3884TrpfsTer19
ENST00000683791.1:c.4736del
ENST00000684460.1:c.8931del
ENST00000684548.1:c.11650del	ENSP00000507421.1:p.Leu3884TrpfsTer19
ENST00000684590.1:c.6097del	ENSP00000507376.1:p.Leu2033TrpfsTer19
ENST00000684656.1:c.9115del
ENST00000613296.6:c.12031del MANE Select	ENSP00000482968.1:p.Leu4011TrpfsTer19
ENST00000651057.1:c.2185del	ENSP00000498504.1:p.Leu729TrpfsTer19
ENST00000651434.1:c.3387del
ENST00000651750.1:c.1260+472del
ENST00000652487.1:c.3202del
ENST00000464408.3:n.206del
ENST00000484298.5:c.11905del	ENSP00000478155.1:p.Leu3969TrpfsTer19
ENST00000613296.4:c.12031del	ENSP00000482968.1:p.Leu4011TrpfsTer19
ENST00000620466.4:n.5834del
NM_015120.4:c.12034del , LRG_741t1:c.12034del	NP_055935.4:p.Leu4012TrpfsTer19
NM_001378454.1:c.12031del MANE Select	NP_001365383.1:p.Leu4011TrpfsTer19