Canonical Allele Identifier: CA1260981852

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490316_73490322delinsCTATTTT , CM000664.2:g.73490316_73490322delinsCTATTTT	GRCh38
NC_000002.11:g.73717443_73717449delinsCTATTTT , CM000664.1:g.73717443_73717449delinsCTATTTT	GRCh37
NC_000002.10:g.73570951_73570957delinsCTATTTT	NCBI36
NG_011690.1:g.109564_109570delinsCTATTTT , LRG_741:g.109564_109570delinsCTATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7976_7982delinsCTATTTT	ENSP00000507671.1:p.Thr2659=
ENST00000682801.1:c.7976_7982delinsCTATTTT	ENSP00000507862.1:p.Thr2659=
ENST00000682859.1:c.7976_7982delinsCTATTTT	ENSP00000508222.1:p.Thr2659=
ENST00000683791.1:c.1368_1374delinsCTATTTT
ENST00000684460.1:c.5428_5434delinsCTATTTT
ENST00000684548.1:c.7976_7982delinsCTATTTT	ENSP00000507421.1:p.Thr2659=
ENST00000684590.1:c.2423_2429delinsCTATTTT	ENSP00000507376.1:p.Thr808=
ENST00000684656.1:c.5428_5434delinsCTATTTT
ENST00000613296.6:c.8357_8363delinsCTATTTT MANE Select	ENSP00000482968.1:p.Thr2786=
ENST00000651434.1:c.896-29459_896-29453delinsCTATTTT
ENST00000423048.5:c.3030+158_3030+164delinsCTATTTT	ENSP00000399833.1:n.3030+158_3030+164delinsCTATTTT
ENST00000484298.5:c.8231_8237delinsCTATTTT	ENSP00000478155.1:p.Thr2744=
ENST00000613296.4:c.8357_8363delinsCTATTTT	ENSP00000482968.1:p.Thr2786=
ENST00000614410.4:c.8357_8363delinsCTATTTT	ENSP00000479094.1:p.Thr2786=
ENST00000620466.4:n.2160_2166delinsCTATTTT
NM_015120.4:c.8360_8366delinsCTATTTT , LRG_741t1:c.8360_8366delinsCTATTTT	NP_055935.4:p.Thr2787=
NM_001378454.1:c.8357_8363delinsCTATTTT MANE Select	NP_001365383.1:p.Thr2786=