Canonical Allele Identifier: CA1260981314

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490033_73490036delinsAAAG , CM000664.2:g.73490033_73490036delinsAAAG	GRCh38
NC_000002.11:g.73717160_73717163delinsAAAG , CM000664.1:g.73717160_73717163delinsAAAG	GRCh37
NC_000002.10:g.73570668_73570671delinsAAAG	NCBI36
NG_011690.1:g.109281_109284delinsAAAG , LRG_741:g.109281_109284delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7693_7696delinsAAAG	ENSP00000507671.1:p.Lys2565=
ENST00000682801.1:c.7693_7696delinsAAAG	ENSP00000507862.1:p.Lys2565=
ENST00000682859.1:c.7693_7696delinsAAAG	ENSP00000508222.1:p.Lys2565=
ENST00000683791.1:c.1085_1088delinsAAAG
ENST00000684460.1:c.5145_5148delinsAAAG
ENST00000684548.1:c.7693_7696delinsAAAG	ENSP00000507421.1:p.Lys2565=
ENST00000684590.1:c.2140_2143delinsAAAG	ENSP00000507376.1:p.Lys714=
ENST00000684656.1:c.5145_5148delinsAAAG
ENST00000613296.6:c.8074_8077delinsAAAG MANE Select	ENSP00000482968.1:p.Lys2692=
ENST00000651434.1:c.896-29742_896-29739delinsAAAG
ENST00000423048.5:c.2905_2908delinsAAAG	ENSP00000399833.1:p.Lys969=
ENST00000484298.5:c.7948_7951delinsAAAG	ENSP00000478155.1:p.Lys2650=
ENST00000613296.4:c.8074_8077delinsAAAG	ENSP00000482968.1:p.Lys2692=
ENST00000614410.4:c.8074_8077delinsAAAG	ENSP00000479094.1:p.Lys2692=
ENST00000620466.4:n.1877_1880delinsAAAG
NM_015120.4:c.8077_8080delinsAAAG , LRG_741t1:c.8077_8080delinsAAAG	NP_055935.4:p.Lys2693=
NM_001378454.1:c.8074_8077delinsAAAG MANE Select	NP_001365383.1:p.Lys2692=