Canonical Allele Identifier: CA2750467825

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572782_73572797del , CM000664.2:g.73572782_73572797del	GRCh38
NC_000002.11:g.73799909_73799924del , CM000664.1:g.73799909_73799924del	GRCh37
NC_000002.10:g.73653417_73653432del	NCBI36
NG_011690.1:g.192030_192045del , LRG_741:g.192030_192045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10524_10539del	ENSP00000507671.1:p.Leu3509HisfsTer20
ENST00000682801.1:c.10524_10539del	ENSP00000507862.1:p.Leu3509HisfsTer20
ENST00000682859.1:c.10524_10539del	ENSP00000508222.1:p.Leu3509HisfsTer20
ENST00000683791.1:c.3610_3625del
ENST00000684460.1:c.7805_7820del
ENST00000684548.1:c.10524_10539del	ENSP00000507421.1:p.Leu3509HisfsTer20
ENST00000684590.1:c.4971_4986del	ENSP00000507376.1:p.Leu1658HisfsTer20
ENST00000684656.1:c.7850_7865del
ENST00000613296.6:c.10905_10920del MANE Select	ENSP00000482968.1:p.Leu3636HisfsTer20
ENST00000651057.1:c.1059_1074del	ENSP00000498504.1:p.Leu354HisfsTer20
ENST00000651434.1:c.2261_2276del
ENST00000651750.1:c.293_308del
ENST00000652487.1:c.2002_2017del
ENST00000423048.5:c.4396_4411del	ENSP00000399833.1:n.4396_4411del
ENST00000484298.5:c.10779_10794del	ENSP00000478155.1:p.Leu3594HisfsTer20
ENST00000613296.4:c.10905_10920del	ENSP00000482968.1:p.Leu3636HisfsTer20
ENST00000614410.4:c.10905_10920del	ENSP00000479094.1:p.Leu3636HisfsTer20
ENST00000620466.4:n.4708_4723del
NM_015120.4:c.10908_10923del , LRG_741t1:c.10908_10923del	NP_055935.4:p.Leu3637HisfsTer20
NM_001378454.1:c.10905_10920del MANE Select	NP_001365383.1:p.Leu3636HisfsTer20