Canonical Allele Identifier: CA2750469881

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601537_73601538del , CM000664.2:g.73601537_73601538del	GRCh38
NC_000002.11:g.73828664_73828665del , CM000664.1:g.73828664_73828665del	GRCh37
NC_000002.10:g.73682172_73682173del	NCBI36
NG_011690.1:g.220785_220786del , LRG_741:g.220785_220786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+101_11733+102del	ENSP00000507671.1:n.11733+101_11733+102del
ENST00000682801.1:c.11167-648_11167-647del	ENSP00000507862.1:n.11167-648_11167-647del
ENST00000682859.1:c.11733+101_11733+102del	ENSP00000508222.1:n.11733+101_11733+102del
ENST00000683791.1:c.4819+101_4819+102del
ENST00000684460.1:c.9014+101_9014+102del
ENST00000684548.1:c.11733+101_11733+102del	ENSP00000507421.1:n.11733+101_11733+102del
ENST00000684590.1:c.6180+101_6180+102del	ENSP00000507376.1:n.6180+101_6180+102del
ENST00000684656.1:c.9198+101_9198+102del
ENST00000613296.6:c.12114+101_12114+102del MANE Select	ENSP00000482968.1:n.12114+101_12114+102del
ENST00000651057.1:c.2268+101_2268+102del	ENSP00000498504.1:n.2268+101_2268+102del
ENST00000651434.1:c.3470+101_3470+102del
ENST00000651750.1:c.1261-648_1261-647del
ENST00000652487.1:c.3285+101_3285+102del
ENST00000464408.3:n.289+101_289+102del
ENST00000484298.5:c.11988+101_11988+102del	ENSP00000478155.1:n.11988+101_11988+102del
ENST00000613296.4:c.12114+101_12114+102del	ENSP00000482968.1:n.12114+101_12114+102del
ENST00000620466.4:n.5917+101_5917+102del
NM_015120.4:c.12117+101_12117+102del , LRG_741t1:c.12117+101_12117+102del	NP_055935.4:n.12117+101_12117+102del
NM_001378454.1:c.12114+101_12114+102del MANE Select	NP_001365383.1:n.12114+101_12114+102del