Canonical Allele Identifier: CA2750469846

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601506_73601507insAG , CM000664.2:g.73601506_73601507insAG	GRCh38
NC_000002.11:g.73828633_73828634insAG , CM000664.1:g.73828633_73828634insAG	GRCh37
NC_000002.10:g.73682141_73682142insAG	NCBI36
NG_011690.1:g.220754_220755insAG , LRG_741:g.220754_220755insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+70_11733+71insAG	ENSP00000507671.1:n.11733+70_11733+71insAG
ENST00000682801.1:c.11167-679_11167-678insAG	ENSP00000507862.1:n.11167-679_11167-678insAG
ENST00000682859.1:c.11733+70_11733+71insAG	ENSP00000508222.1:n.11733+70_11733+71insAG
ENST00000683791.1:c.4819+70_4819+71insAG
ENST00000684460.1:c.9014+70_9014+71insAG
ENST00000684548.1:c.11733+70_11733+71insAG	ENSP00000507421.1:n.11733+70_11733+71insAG
ENST00000684590.1:c.6180+70_6180+71insAG	ENSP00000507376.1:n.6180+70_6180+71insAG
ENST00000684656.1:c.9198+70_9198+71insAG
ENST00000613296.6:c.12114+70_12114+71insAG MANE Select	ENSP00000482968.1:n.12114+70_12114+71insAG
ENST00000651057.1:c.2268+70_2268+71insAG	ENSP00000498504.1:n.2268+70_2268+71insAG
ENST00000651434.1:c.3470+70_3470+71insAG
ENST00000651750.1:c.1260+625_1260+626insAG
ENST00000652487.1:c.3285+70_3285+71insAG
ENST00000464408.3:n.289+70_289+71insAG
ENST00000484298.5:c.11988+70_11988+71insAG	ENSP00000478155.1:n.11988+70_11988+71insAG
ENST00000613296.4:c.12114+70_12114+71insAG	ENSP00000482968.1:n.12114+70_12114+71insAG
ENST00000620466.4:n.5917+70_5917+71insAG
NM_015120.4:c.12117+70_12117+71insAG , LRG_741t1:c.12117+70_12117+71insAG	NP_055935.4:n.12117+70_12117+71insAG
NM_001378454.1:c.12114+70_12114+71insAG MANE Select	NP_001365383.1:n.12114+70_12114+71insAG