Canonical Allele Identifier: CA2530793727

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572073_73572074insGACAG , CM000664.2:g.73572073_73572074insGACAG	GRCh38
NC_000002.11:g.73799200_73799201insGACAG , CM000664.1:g.73799200_73799201insGACAG	GRCh37
NC_000002.10:g.73652708_73652709insGACAG	NCBI36
NG_011690.1:g.191321_191322insGACAG , LRG_741:g.191321_191322insGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-189_10004-188insGACAG	ENSP00000507671.1:n.10004-189_10004-188insGACAG
ENST00000682801.1:c.10004-189_10004-188insGACAG	ENSP00000507862.1:n.10004-189_10004-188insGACAG
ENST00000682859.1:c.10004-189_10004-188insGACAG	ENSP00000508222.1:n.10004-189_10004-188insGACAG
ENST00000683791.1:c.3090-189_3090-188insGACAG
ENST00000684460.1:c.7285-189_7285-188insGACAG
ENST00000684548.1:c.10004-189_10004-188insGACAG	ENSP00000507421.1:n.10004-189_10004-188insGACAG
ENST00000684590.1:c.4451-189_4451-188insGACAG	ENSP00000507376.1:n.4451-189_4451-188insGACAG
ENST00000684656.1:c.7330-189_7330-188insGACAG
ENST00000613296.6:c.10385-189_10385-188insGACAG MANE Select	ENSP00000482968.1:n.10385-189_10385-188insGACAG
ENST00000651057.1:c.539-189_539-188insGACAG	ENSP00000498504.1:n.539-189_539-188insGACAG
ENST00000651434.1:c.1741-189_1741-188insGACAG
ENST00000652487.1:c.1482-189_1482-188insGACAG
ENST00000423048.5:c.3876-189_3876-188insGACAG	ENSP00000399833.1:n.3876-189_3876-188insGACAG
ENST00000484298.5:c.10259-189_10259-188insGACAG	ENSP00000478155.1:n.10259-189_10259-188insGACAG
ENST00000613296.4:c.10385-189_10385-188insGACAG	ENSP00000482968.1:n.10385-189_10385-188insGACAG
ENST00000614410.4:c.10385-189_10385-188insGACAG	ENSP00000479094.1:n.10385-189_10385-188insGACAG
ENST00000620466.4:n.4188-189_4188-188insGACAG
NM_015120.4:c.10388-189_10388-188insGACAG , LRG_741t1:c.10388-189_10388-188insGACAG	NP_055935.4:n.10388-189_10388-188insGACAG
NM_001378454.1:c.10385-189_10385-188insGACAG MANE Select	NP_001365383.1:n.10385-189_10385-188insGACAG