Canonical Allele Identifier: CA2750469840

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601501_73601502insA , CM000664.2:g.73601501_73601502insA	GRCh38
NC_000002.11:g.73828628_73828629insA , CM000664.1:g.73828628_73828629insA	GRCh37
NC_000002.10:g.73682136_73682137insA	NCBI36
NG_011690.1:g.220749_220750insA , LRG_741:g.220749_220750insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+65_11733+66insA	ENSP00000507671.1:n.11733+65_11733+66insA
ENST00000682801.1:c.11167-684_11167-683insA	ENSP00000507862.1:n.11167-684_11167-683insA
ENST00000682859.1:c.11733+65_11733+66insA	ENSP00000508222.1:n.11733+65_11733+66insA
ENST00000683791.1:c.4819+65_4819+66insA
ENST00000684460.1:c.9014+65_9014+66insA
ENST00000684548.1:c.11733+65_11733+66insA	ENSP00000507421.1:n.11733+65_11733+66insA
ENST00000684590.1:c.6180+65_6180+66insA	ENSP00000507376.1:n.6180+65_6180+66insA
ENST00000684656.1:c.9198+65_9198+66insA
ENST00000613296.6:c.12114+65_12114+66insA MANE Select	ENSP00000482968.1:n.12114+65_12114+66insA
ENST00000651057.1:c.2268+65_2268+66insA	ENSP00000498504.1:n.2268+65_2268+66insA
ENST00000651434.1:c.3470+65_3470+66insA
ENST00000651750.1:c.1260+620_1260+621insA
ENST00000652487.1:c.3285+65_3285+66insA
ENST00000464408.3:n.289+65_289+66insA
ENST00000484298.5:c.11988+65_11988+66insA	ENSP00000478155.1:n.11988+65_11988+66insA
ENST00000613296.4:c.12114+65_12114+66insA	ENSP00000482968.1:n.12114+65_12114+66insA
ENST00000620466.4:n.5917+65_5917+66insA
NM_015120.4:c.12117+65_12117+66insA , LRG_741t1:c.12117+65_12117+66insA	NP_055935.4:n.12117+65_12117+66insA
NM_001378454.1:c.12114+65_12114+66insA MANE Select	NP_001365383.1:n.12114+65_12114+66insA