Canonical Allele Identifier: CA2750469855

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601518_73601519insACA , CM000664.2:g.73601518_73601519insACA	GRCh38
NC_000002.11:g.73828645_73828646insACA , CM000664.1:g.73828645_73828646insACA	GRCh37
NC_000002.10:g.73682153_73682154insACA	NCBI36
NG_011690.1:g.220766_220767insACA , LRG_741:g.220766_220767insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+82_11733+83insACA	ENSP00000507671.1:n.11733+82_11733+83insACA
ENST00000682801.1:c.11167-667_11167-666insACA	ENSP00000507862.1:n.11167-667_11167-666insACA
ENST00000682859.1:c.11733+82_11733+83insACA	ENSP00000508222.1:n.11733+82_11733+83insACA
ENST00000683791.1:c.4819+82_4819+83insACA
ENST00000684460.1:c.9014+82_9014+83insACA
ENST00000684548.1:c.11733+82_11733+83insACA	ENSP00000507421.1:n.11733+82_11733+83insACA
ENST00000684590.1:c.6180+82_6180+83insACA	ENSP00000507376.1:n.6180+82_6180+83insACA
ENST00000684656.1:c.9198+82_9198+83insACA
ENST00000613296.6:c.12114+82_12114+83insACA MANE Select	ENSP00000482968.1:n.12114+82_12114+83insACA
ENST00000651057.1:c.2268+82_2268+83insACA	ENSP00000498504.1:n.2268+82_2268+83insACA
ENST00000651434.1:c.3470+82_3470+83insACA
ENST00000651750.1:c.1260+637_1260+638insACA
ENST00000652487.1:c.3285+82_3285+83insACA
ENST00000464408.3:n.289+82_289+83insACA
ENST00000484298.5:c.11988+82_11988+83insACA	ENSP00000478155.1:n.11988+82_11988+83insACA
ENST00000613296.4:c.12114+82_12114+83insACA	ENSP00000482968.1:n.12114+82_12114+83insACA
ENST00000620466.4:n.5917+82_5917+83insACA
NM_015120.4:c.12117+82_12117+83insACA , LRG_741t1:c.12117+82_12117+83insACA	NP_055935.4:n.12117+82_12117+83insACA
NM_001378454.1:c.12114+82_12114+83insACA MANE Select	NP_001365383.1:n.12114+82_12114+83insACA