Canonical Allele Identifier: CA913090881

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828552_73828554del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601425_73601427del , CM000664.2:g.73601425_73601427del	GRCh38
NC_000002.11:g.73828552_73828554del , CM000664.1:g.73828552_73828554del	GRCh37
NC_000002.10:g.73682060_73682062del	NCBI36
NG_011690.1:g.220673_220675del , LRG_741:g.220673_220675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11722_11724del	ENSP00000507671.1:p.Ala3908del
ENST00000682801.1:c.11167-760_11167-758del	ENSP00000507862.1:n.11167-760_11167-758del
ENST00000682859.1:c.11722_11724del	ENSP00000508222.1:p.Ala3908del
ENST00000683791.1:c.4808_4810del
ENST00000684460.1:c.9003_9005del
ENST00000684548.1:c.11722_11724del	ENSP00000507421.1:p.Ala3908del
ENST00000684590.1:c.6169_6171del	ENSP00000507376.1:p.Ala2057del
ENST00000684656.1:c.9187_9189del
ENST00000613296.6:c.12103_12105del MANE Select	ENSP00000482968.1:p.Ala4035del
ENST00000651057.1:c.2257_2259del	ENSP00000498504.1:p.Ala753del
ENST00000651434.1:c.3459_3461del
ENST00000651750.1:c.1260+544_1260+546del
ENST00000652487.1:c.3274_3276del
ENST00000464408.3:n.278_280del
ENST00000484298.5:c.11977_11979del	ENSP00000478155.1:p.Ala3993del
ENST00000613296.4:c.12103_12105del	ENSP00000482968.1:p.Ala4035del
ENST00000620466.4:n.5906_5908del
NM_015120.4:c.12106_12108del , LRG_741t1:c.12106_12108del	NP_055935.4:p.Ala4036del
NM_001378454.1:c.12103_12105del MANE Select	NP_001365383.1:p.Ala4035del