Canonical Allele Identifier: CA2750469819

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601471_73601472insAGTA , CM000664.2:g.73601471_73601472insAGTA	GRCh38
NC_000002.11:g.73828598_73828599insAGTA , CM000664.1:g.73828598_73828599insAGTA	GRCh37
NC_000002.10:g.73682106_73682107insAGTA	NCBI36
NG_011690.1:g.220719_220720insAGTA , LRG_741:g.220719_220720insAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+35_11733+36insAGTA	ENSP00000507671.1:n.11733+35_11733+36insAGTA
ENST00000682801.1:c.11167-714_11167-713insAGTA	ENSP00000507862.1:n.11167-714_11167-713insAGTA
ENST00000682859.1:c.11733+35_11733+36insAGTA	ENSP00000508222.1:n.11733+35_11733+36insAGTA
ENST00000683791.1:c.4819+35_4819+36insAGTA
ENST00000684460.1:c.9014+35_9014+36insAGTA
ENST00000684548.1:c.11733+35_11733+36insAGTA	ENSP00000507421.1:n.11733+35_11733+36insAGTA
ENST00000684590.1:c.6180+35_6180+36insAGTA	ENSP00000507376.1:n.6180+35_6180+36insAGTA
ENST00000684656.1:c.9198+35_9198+36insAGTA
ENST00000613296.6:c.12114+35_12114+36insAGTA MANE Select	ENSP00000482968.1:n.12114+35_12114+36insAGTA
ENST00000651057.1:c.2268+35_2268+36insAGTA	ENSP00000498504.1:n.2268+35_2268+36insAGTA
ENST00000651434.1:c.3470+35_3470+36insAGTA
ENST00000651750.1:c.1260+590_1260+591insAGTA
ENST00000652487.1:c.3285+35_3285+36insAGTA
ENST00000464408.3:n.289+35_289+36insAGTA
ENST00000484298.5:c.11988+35_11988+36insAGTA	ENSP00000478155.1:n.11988+35_11988+36insAGTA
ENST00000613296.4:c.12114+35_12114+36insAGTA	ENSP00000482968.1:n.12114+35_12114+36insAGTA
ENST00000620466.4:n.5917+35_5917+36insAGTA
NM_015120.4:c.12117+35_12117+36insAGTA , LRG_741t1:c.12117+35_12117+36insAGTA	NP_055935.4:n.12117+35_12117+36insAGTA
NM_001378454.1:c.12114+35_12114+36insAGTA MANE Select	NP_001365383.1:n.12114+35_12114+36insAGTA