Canonical Allele Identifier: CA913090878

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828523_73828524del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601396_73601397del , CM000664.2:g.73601396_73601397del	GRCh38
NC_000002.11:g.73828523_73828524del , CM000664.1:g.73828523_73828524del	GRCh37
NC_000002.10:g.73682031_73682032del	NCBI36
NG_011690.1:g.220644_220645del , LRG_741:g.220644_220645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11693_11694del	ENSP00000507671.1:p.Gly3898GlufsTer22
ENST00000682801.1:c.11167-789_11167-788del	ENSP00000507862.1:n.11167-789_11167-788del
ENST00000682859.1:c.11693_11694del	ENSP00000508222.1:p.Gly3898GlufsTer22
ENST00000683791.1:c.4779_4780del
ENST00000684460.1:c.8974_8975del
ENST00000684548.1:c.11693_11694del	ENSP00000507421.1:p.Gly3898GlufsTer22
ENST00000684590.1:c.6140_6141del	ENSP00000507376.1:p.Gly2047GlufsTer22
ENST00000684656.1:c.9158_9159del
ENST00000613296.6:c.12074_12075del MANE Select	ENSP00000482968.1:p.Gly4025GlufsTer22
ENST00000651057.1:c.2228_2229del	ENSP00000498504.1:p.Gly743GlufsTer22
ENST00000651434.1:c.3430_3431del
ENST00000651750.1:c.1260+515_1260+516del
ENST00000652487.1:c.3245_3246del
ENST00000464408.3:n.249_250del
ENST00000484298.5:c.11948_11949del	ENSP00000478155.1:p.Gly3983GlufsTer22
ENST00000613296.4:c.12074_12075del	ENSP00000482968.1:p.Gly4025GlufsTer22
ENST00000620466.4:n.5877_5878del
NM_015120.4:c.12077_12078del , LRG_741t1:c.12077_12078del	NP_055935.4:p.Gly4026GlufsTer22
NM_001378454.1:c.12074_12075del MANE Select	NP_001365383.1:p.Gly4025GlufsTer22