Canonical Allele Identifier: CA1261034119

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601422_73601423delinsAG , CM000664.2:g.73601422_73601423delinsAG	GRCh38
NC_000002.11:g.73828549_73828550delinsAG , CM000664.1:g.73828549_73828550delinsAG	GRCh37
NC_000002.10:g.73682057_73682058delinsAG	NCBI36
NG_011690.1:g.220670_220671delinsAG , LRG_741:g.220670_220671delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11719_11720delinsAG	ENSP00000507671.1:p.Arg3907=
ENST00000682801.1:c.11167-763_11167-762delinsAG	ENSP00000507862.1:n.11167-763_11167-762delinsAG
ENST00000682859.1:c.11719_11720delinsAG	ENSP00000508222.1:p.Arg3907=
ENST00000683791.1:c.4805_4806delinsAG
ENST00000684460.1:c.9000_9001delinsAG
ENST00000684548.1:c.11719_11720delinsAG	ENSP00000507421.1:p.Arg3907=
ENST00000684590.1:c.6166_6167delinsAG	ENSP00000507376.1:p.Arg2056=
ENST00000684656.1:c.9184_9185delinsAG
ENST00000613296.6:c.12100_12101delinsAG MANE Select	ENSP00000482968.1:p.Arg4034=
ENST00000651057.1:c.2254_2255delinsAG	ENSP00000498504.1:p.Arg752=
ENST00000651434.1:c.3456_3457delinsAG
ENST00000651750.1:c.1260+541_1260+542delinsAG
ENST00000652487.1:c.3271_3272delinsAG
ENST00000464408.3:n.275_276delinsAG
ENST00000484298.5:c.11974_11975delinsAG	ENSP00000478155.1:p.Arg3992=
ENST00000613296.4:c.12100_12101delinsAG	ENSP00000482968.1:p.Arg4034=
ENST00000620466.4:n.5903_5904delinsAG
NM_015120.4:c.12103_12104delinsAG , LRG_741t1:c.12103_12104delinsAG	NP_055935.4:p.Arg4035=
NM_001378454.1:c.12100_12101delinsAG MANE Select	NP_001365383.1:p.Arg4034=