Canonical Allele Identifier: CA913090879

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828531_73828535del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601404_73601408del , CM000664.2:g.73601404_73601408del	GRCh38
NC_000002.11:g.73828531_73828535del , CM000664.1:g.73828531_73828535del	GRCh37
NC_000002.10:g.73682039_73682043del	NCBI36
NG_011690.1:g.220652_220656del , LRG_741:g.220652_220656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11701_11705del	ENSP00000507671.1:p.Leu3901GlufsTer18
ENST00000682801.1:c.11167-781_11167-777del	ENSP00000507862.1:n.11167-781_11167-777del
ENST00000682859.1:c.11701_11705del	ENSP00000508222.1:p.Leu3901GlufsTer18
ENST00000683791.1:c.4787_4791del
ENST00000684460.1:c.8982_8986del
ENST00000684548.1:c.11701_11705del	ENSP00000507421.1:p.Leu3901GlufsTer18
ENST00000684590.1:c.6148_6152del	ENSP00000507376.1:p.Leu2050GlufsTer18
ENST00000684656.1:c.9166_9170del
ENST00000613296.6:c.12082_12086del MANE Select	ENSP00000482968.1:p.Leu4028GlufsTer18
ENST00000651057.1:c.2236_2240del	ENSP00000498504.1:p.Leu746GlufsTer18
ENST00000651434.1:c.3438_3442del
ENST00000651750.1:c.1260+523_1260+527del
ENST00000652487.1:c.3253_3257del
ENST00000464408.3:n.257_261del
ENST00000484298.5:c.11956_11960del	ENSP00000478155.1:p.Leu3986GlufsTer18
ENST00000613296.4:c.12082_12086del	ENSP00000482968.1:p.Leu4028GlufsTer18
ENST00000620466.4:n.5885_5889del
NM_015120.4:c.12085_12089del , LRG_741t1:c.12085_12089del	NP_055935.4:p.Leu4029GlufsTer18
NM_001378454.1:c.12082_12086del MANE Select	NP_001365383.1:p.Leu4028GlufsTer18