Canonical Allele Identifier: CA273836

Gene: MECP2

Linked Data

• dbSNP Id: rs1557136595
• MyVariant Identifiers: chrX:g.153296563_153296577del (hg19) ; chrX:g.154031112_154031126del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031115_154031129del , CM000685.2:g.154031115_154031129del	GRCh38
NC_000023.10:g.153296566_153296580del , CM000685.1:g.153296566_153296580del	GRCh37
NC_000023.9:g.152949760_152949774del	NCBI36
NG_007107.2:g.111002_111016del
NG_007107.3:g.110978_110992del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.702_716del MANE Plus Clinical	ENSP00000301948.6:p.Glu235_Ala239del
ENST00000453960.7:c.738_752del MANE Select	ENSP00000395535.2:p.Glu247_Ala251del
ENST00000637917.1:c.66-190_66-176del
ENST00000303391.10:c.702_716del	ENSP00000301948.6:p.Glu235_Ala239del
ENST00000407218.5:c.*74_*88del	ENSP00000384865.2:n.*74_*88del
ENST00000453960.6:c.738_752del	ENSP00000395535.2:p.Glu247_Ala251del
ENST00000619732.4:c.702_716del	ENSP00000480973.1:p.Glu235_Ala239del
ENST00000622433.4:c.690_704del	ENSP00000484470.1:p.Glu231_Ala235del
ENST00000628176.2:c.*74_*88del	ENSP00000486978.1:n.*74_*88del
NM_001110792.1:c.738_752del	NP_001104262.1:p.Glu247_Ala251del
NM_001316337.1:c.423_437del	NP_001303266.1:p.Glu142_Ala146del
NM_004992.3:c.702_716del	NP_004983.1:p.Glu235_Ala239del
XM_005274681.3:c.702_716del	XP_005274738.1:p.Glu235_Ala239del
XM_005274682.3:c.423_437del	XP_005274739.1:p.Glu142_Ala146del
XM_005274683.3:c.423_437del	XP_005274740.1:p.Glu142_Ala146del
XM_006724819.2:c.33_47del	XP_006724882.1:p.Glu12_Ala16del
XM_011531166.1:c.423_437del	XP_011529468.1:p.Glu142_Ala146del
XM_006724819.3:c.33_47del	XP_006724882.1:p.Glu12_Ala16del
XM_011531166.2:c.423_437del	XP_011529468.1:p.Glu142_Ala146del
XM_024452383.1:c.423_437del	XP_024308151.1:p.Glu142_Ala146del
XM_024452384.1:c.423_437del	XP_024308152.1:p.Glu142_Ala146del
NM_001110792.2:c.738_752del MANE Select	NP_001104262.1:p.Glu247_Ala251del
NM_001316337.2:c.423_437del	NP_001303266.1:p.Glu142_Ala146del
NM_001369391.2:c.423_437del	NP_001356320.1:p.Glu142_Ala146del
NM_001369392.2:c.423_437del	NP_001356321.1:p.Glu142_Ala146del
NM_001369393.2:c.423_437del	NP_001356322.1:p.Glu142_Ala146del
NM_001369394.1:c.423_437del	NP_001356323.1:p.Glu142_Ala146del
NM_001369394.2:c.423_437del	NP_001356323.1:p.Glu142_Ala146del
NM_001386137.1:c.33_47del	NP_001373066.1:p.Glu12_Ala16del
NM_001386138.1:c.33_47del	NP_001373067.1:p.Glu12_Ala16del
NM_001386139.1:c.33_47del	NP_001373068.1:p.Glu12_Ala16del
NM_004992.4:c.702_716del MANE Plus Clinical	NP_004983.1:p.Glu235_Ala239del