Canonical Allele Identifier: CA2750469833

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601491_73601492insACA , CM000664.2:g.73601491_73601492insACA	GRCh38
NC_000002.11:g.73828618_73828619insACA , CM000664.1:g.73828618_73828619insACA	GRCh37
NC_000002.10:g.73682126_73682127insACA	NCBI36
NG_011690.1:g.220739_220740insACA , LRG_741:g.220739_220740insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+55_11733+56insACA	ENSP00000507671.1:n.11733+55_11733+56insACA
ENST00000682801.1:c.11167-694_11167-693insACA	ENSP00000507862.1:n.11167-694_11167-693insACA
ENST00000682859.1:c.11733+55_11733+56insACA	ENSP00000508222.1:n.11733+55_11733+56insACA
ENST00000683791.1:c.4819+55_4819+56insACA
ENST00000684460.1:c.9014+55_9014+56insACA
ENST00000684548.1:c.11733+55_11733+56insACA	ENSP00000507421.1:n.11733+55_11733+56insACA
ENST00000684590.1:c.6180+55_6180+56insACA	ENSP00000507376.1:n.6180+55_6180+56insACA
ENST00000684656.1:c.9198+55_9198+56insACA
ENST00000613296.6:c.12114+55_12114+56insACA MANE Select	ENSP00000482968.1:n.12114+55_12114+56insACA
ENST00000651057.1:c.2268+55_2268+56insACA	ENSP00000498504.1:n.2268+55_2268+56insACA
ENST00000651434.1:c.3470+55_3470+56insACA
ENST00000651750.1:c.1260+610_1260+611insACA
ENST00000652487.1:c.3285+55_3285+56insACA
ENST00000464408.3:n.289+55_289+56insACA
ENST00000484298.5:c.11988+55_11988+56insACA	ENSP00000478155.1:n.11988+55_11988+56insACA
ENST00000613296.4:c.12114+55_12114+56insACA	ENSP00000482968.1:n.12114+55_12114+56insACA
ENST00000620466.4:n.5917+55_5917+56insACA
NM_015120.4:c.12117+55_12117+56insACA , LRG_741t1:c.12117+55_12117+56insACA	NP_055935.4:n.12117+55_12117+56insACA
NM_001378454.1:c.12114+55_12114+56insACA MANE Select	NP_001365383.1:n.12114+55_12114+56insACA