Canonical Allele Identifier: CA2750469832

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601492_73601494del , CM000664.2:g.73601492_73601494del	GRCh38
NC_000002.11:g.73828619_73828621del , CM000664.1:g.73828619_73828621del	GRCh37
NC_000002.10:g.73682127_73682129del	NCBI36
NG_011690.1:g.220740_220742del , LRG_741:g.220740_220742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+56_11733+58del	ENSP00000507671.1:n.11733+56_11733+58del
ENST00000682801.1:c.11167-693_11167-691del	ENSP00000507862.1:n.11167-693_11167-691del
ENST00000682859.1:c.11733+56_11733+58del	ENSP00000508222.1:n.11733+56_11733+58del
ENST00000683791.1:c.4819+56_4819+58del
ENST00000684460.1:c.9014+56_9014+58del
ENST00000684548.1:c.11733+56_11733+58del	ENSP00000507421.1:n.11733+56_11733+58del
ENST00000684590.1:c.6180+56_6180+58del	ENSP00000507376.1:n.6180+56_6180+58del
ENST00000684656.1:c.9198+56_9198+58del
ENST00000613296.6:c.12114+56_12114+58del MANE Select	ENSP00000482968.1:n.12114+56_12114+58del
ENST00000651057.1:c.2268+56_2268+58del	ENSP00000498504.1:n.2268+56_2268+58del
ENST00000651434.1:c.3470+56_3470+58del
ENST00000651750.1:c.1260+611_1260+613del
ENST00000652487.1:c.3285+56_3285+58del
ENST00000464408.3:n.289+56_289+58del
ENST00000484298.5:c.11988+56_11988+58del	ENSP00000478155.1:n.11988+56_11988+58del
ENST00000613296.4:c.12114+56_12114+58del	ENSP00000482968.1:n.12114+56_12114+58del
ENST00000620466.4:n.5917+56_5917+58del
NM_015120.4:c.12117+56_12117+58del , LRG_741t1:c.12117+56_12117+58del	NP_055935.4:n.12117+56_12117+58del
NM_001378454.1:c.12114+56_12114+58del MANE Select	NP_001365383.1:n.12114+56_12114+58del