Canonical Allele Identifier: CA2750469847

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601509_73601511del , CM000664.2:g.73601509_73601511del	GRCh38
NC_000002.11:g.73828636_73828638del , CM000664.1:g.73828636_73828638del	GRCh37
NC_000002.10:g.73682144_73682146del	NCBI36
NG_011690.1:g.220757_220759del , LRG_741:g.220757_220759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+73_11733+75del	ENSP00000507671.1:n.11733+73_11733+75del
ENST00000682801.1:c.11167-676_11167-674del	ENSP00000507862.1:n.11167-676_11167-674del
ENST00000682859.1:c.11733+73_11733+75del	ENSP00000508222.1:n.11733+73_11733+75del
ENST00000683791.1:c.4819+73_4819+75del
ENST00000684460.1:c.9014+73_9014+75del
ENST00000684548.1:c.11733+73_11733+75del	ENSP00000507421.1:n.11733+73_11733+75del
ENST00000684590.1:c.6180+73_6180+75del	ENSP00000507376.1:n.6180+73_6180+75del
ENST00000684656.1:c.9198+73_9198+75del
ENST00000613296.6:c.12114+73_12114+75del MANE Select	ENSP00000482968.1:n.12114+73_12114+75del
ENST00000651057.1:c.2268+73_2268+75del	ENSP00000498504.1:n.2268+73_2268+75del
ENST00000651434.1:c.3470+73_3470+75del
ENST00000651750.1:c.1260+628_1260+630del
ENST00000652487.1:c.3285+73_3285+75del
ENST00000464408.3:n.289+73_289+75del
ENST00000484298.5:c.11988+73_11988+75del	ENSP00000478155.1:n.11988+73_11988+75del
ENST00000613296.4:c.12114+73_12114+75del	ENSP00000482968.1:n.12114+73_12114+75del
ENST00000620466.4:n.5917+73_5917+75del
NM_015120.4:c.12117+73_12117+75del , LRG_741t1:c.12117+73_12117+75del	NP_055935.4:n.12117+73_12117+75del
NM_001378454.1:c.12114+73_12114+75del MANE Select	NP_001365383.1:n.12114+73_12114+75del