Canonical Allele Identifier: CA2750469848

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601510_73601511insAC , CM000664.2:g.73601510_73601511insAC	GRCh38
NC_000002.11:g.73828637_73828638insAC , CM000664.1:g.73828637_73828638insAC	GRCh37
NC_000002.10:g.73682145_73682146insAC	NCBI36
NG_011690.1:g.220758_220759insAC , LRG_741:g.220758_220759insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+74_11733+75insAC	ENSP00000507671.1:n.11733+74_11733+75insAC
ENST00000682801.1:c.11167-675_11167-674insAC	ENSP00000507862.1:n.11167-675_11167-674insAC
ENST00000682859.1:c.11733+74_11733+75insAC	ENSP00000508222.1:n.11733+74_11733+75insAC
ENST00000683791.1:c.4819+74_4819+75insAC
ENST00000684460.1:c.9014+74_9014+75insAC
ENST00000684548.1:c.11733+74_11733+75insAC	ENSP00000507421.1:n.11733+74_11733+75insAC
ENST00000684590.1:c.6180+74_6180+75insAC	ENSP00000507376.1:n.6180+74_6180+75insAC
ENST00000684656.1:c.9198+74_9198+75insAC
ENST00000613296.6:c.12114+74_12114+75insAC MANE Select	ENSP00000482968.1:n.12114+74_12114+75insAC
ENST00000651057.1:c.2268+74_2268+75insAC	ENSP00000498504.1:n.2268+74_2268+75insAC
ENST00000651434.1:c.3470+74_3470+75insAC
ENST00000651750.1:c.1260+629_1260+630insAC
ENST00000652487.1:c.3285+74_3285+75insAC
ENST00000464408.3:n.289+74_289+75insAC
ENST00000484298.5:c.11988+74_11988+75insAC	ENSP00000478155.1:n.11988+74_11988+75insAC
ENST00000613296.4:c.12114+74_12114+75insAC	ENSP00000482968.1:n.12114+74_12114+75insAC
ENST00000620466.4:n.5917+74_5917+75insAC
NM_015120.4:c.12117+74_12117+75insAC , LRG_741t1:c.12117+74_12117+75insAC	NP_055935.4:n.12117+74_12117+75insAC
NM_001378454.1:c.12114+74_12114+75insAC MANE Select	NP_001365383.1:n.12114+74_12114+75insAC