Canonical Allele Identifier: CA1260981900

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490332_73490333delinsTA , CM000664.2:g.73490332_73490333delinsTA	GRCh38
NC_000002.11:g.73717459_73717460delinsTA , CM000664.1:g.73717459_73717460delinsTA	GRCh37
NC_000002.10:g.73570967_73570968delinsTA	NCBI36
NG_011690.1:g.109580_109581delinsTA , LRG_741:g.109580_109581delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7992_7993delinsTA	ENSP00000507671.1:p.Gly2664=
ENST00000682801.1:c.7992_7993delinsTA	ENSP00000507862.1:p.Gly2664=
ENST00000682859.1:c.7992_7993delinsTA	ENSP00000508222.1:p.Gly2664=
ENST00000683791.1:c.1384_1385delinsTA
ENST00000684460.1:c.5444_5445delinsTA
ENST00000684548.1:c.7992_7993delinsTA	ENSP00000507421.1:p.Gly2664=
ENST00000684590.1:c.2439_2440delinsTA	ENSP00000507376.1:p.Gly813=
ENST00000684656.1:c.5444_5445delinsTA
ENST00000613296.6:c.8373_8374delinsTA MANE Select	ENSP00000482968.1:p.Gly2791=
ENST00000651434.1:c.896-29443_896-29442delinsTA
ENST00000423048.5:c.3030+174_3030+175delinsTA	ENSP00000399833.1:n.3030+174_3030+175delinsTA
ENST00000484298.5:c.8247_8248delinsTA	ENSP00000478155.1:p.Gly2749=
ENST00000613296.4:c.8373_8374delinsTA	ENSP00000482968.1:p.Gly2791=
ENST00000614410.4:c.8373_8374delinsTA	ENSP00000479094.1:p.Gly2791=
ENST00000620466.4:n.2176_2177delinsTA
NM_015120.4:c.8376_8377delinsTA , LRG_741t1:c.8376_8377delinsTA	NP_055935.4:p.Gly2792=
NM_001378454.1:c.8373_8374delinsTA MANE Select	NP_001365383.1:p.Gly2791=