Canonical Allele Identifier: CA2750469863

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601522_73601523insAGT , CM000664.2:g.73601522_73601523insAGT	GRCh38
NC_000002.11:g.73828649_73828650insAGT , CM000664.1:g.73828649_73828650insAGT	GRCh37
NC_000002.10:g.73682157_73682158insAGT	NCBI36
NG_011690.1:g.220770_220771insAGT , LRG_741:g.220770_220771insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+86_11733+87insAGT	ENSP00000507671.1:n.11733+86_11733+87insAGT
ENST00000682801.1:c.11167-663_11167-662insAGT	ENSP00000507862.1:n.11167-663_11167-662insAGT
ENST00000682859.1:c.11733+86_11733+87insAGT	ENSP00000508222.1:n.11733+86_11733+87insAGT
ENST00000683791.1:c.4819+86_4819+87insAGT
ENST00000684460.1:c.9014+86_9014+87insAGT
ENST00000684548.1:c.11733+86_11733+87insAGT	ENSP00000507421.1:n.11733+86_11733+87insAGT
ENST00000684590.1:c.6180+86_6180+87insAGT	ENSP00000507376.1:n.6180+86_6180+87insAGT
ENST00000684656.1:c.9198+86_9198+87insAGT
ENST00000613296.6:c.12114+86_12114+87insAGT MANE Select	ENSP00000482968.1:n.12114+86_12114+87insAGT
ENST00000651057.1:c.2268+86_2268+87insAGT	ENSP00000498504.1:n.2268+86_2268+87insAGT
ENST00000651434.1:c.3470+86_3470+87insAGT
ENST00000651750.1:c.1260+641_1260+642insAGT
ENST00000652487.1:c.3285+86_3285+87insAGT
ENST00000464408.3:n.289+86_289+87insAGT
ENST00000484298.5:c.11988+86_11988+87insAGT	ENSP00000478155.1:n.11988+86_11988+87insAGT
ENST00000613296.4:c.12114+86_12114+87insAGT	ENSP00000482968.1:n.12114+86_12114+87insAGT
ENST00000620466.4:n.5917+86_5917+87insAGT
NM_015120.4:c.12117+86_12117+87insAGT , LRG_741t1:c.12117+86_12117+87insAGT	NP_055935.4:n.12117+86_12117+87insAGT
NM_001378454.1:c.12114+86_12114+87insAGT MANE Select	NP_001365383.1:n.12114+86_12114+87insAGT