Canonical Allele Identifier: CA2750469849

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601511_73601512insA , CM000664.2:g.73601511_73601512insA	GRCh38
NC_000002.11:g.73828638_73828639insA , CM000664.1:g.73828638_73828639insA	GRCh37
NC_000002.10:g.73682146_73682147insA	NCBI36
NG_011690.1:g.220759_220760insA , LRG_741:g.220759_220760insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+75_11733+76insA	ENSP00000507671.1:n.11733+75_11733+76insA
ENST00000682801.1:c.11167-674_11167-673insA	ENSP00000507862.1:n.11167-674_11167-673insA
ENST00000682859.1:c.11733+75_11733+76insA	ENSP00000508222.1:n.11733+75_11733+76insA
ENST00000683791.1:c.4819+75_4819+76insA
ENST00000684460.1:c.9014+75_9014+76insA
ENST00000684548.1:c.11733+75_11733+76insA	ENSP00000507421.1:n.11733+75_11733+76insA
ENST00000684590.1:c.6180+75_6180+76insA	ENSP00000507376.1:n.6180+75_6180+76insA
ENST00000684656.1:c.9198+75_9198+76insA
ENST00000613296.6:c.12114+75_12114+76insA MANE Select	ENSP00000482968.1:n.12114+75_12114+76insA
ENST00000651057.1:c.2268+75_2268+76insA	ENSP00000498504.1:n.2268+75_2268+76insA
ENST00000651434.1:c.3470+75_3470+76insA
ENST00000651750.1:c.1260+630_1260+631insA
ENST00000652487.1:c.3285+75_3285+76insA
ENST00000464408.3:n.289+75_289+76insA
ENST00000484298.5:c.11988+75_11988+76insA	ENSP00000478155.1:n.11988+75_11988+76insA
ENST00000613296.4:c.12114+75_12114+76insA	ENSP00000482968.1:n.12114+75_12114+76insA
ENST00000620466.4:n.5917+75_5917+76insA
NM_015120.4:c.12117+75_12117+76insA , LRG_741t1:c.12117+75_12117+76insA	NP_055935.4:n.12117+75_12117+76insA
NM_001378454.1:c.12114+75_12114+76insA MANE Select	NP_001365383.1:n.12114+75_12114+76insA