Canonical Allele Identifier: CA2573159389
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402665
ClinVar RCV Id: RCV001897006
dbSNP Id: rs2148663769

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031290_154031291insA , CM000685.2:g.154031290_154031291insA GRCh38
NC_000023.10:g.153296741_153296742insA , CM000685.1:g.153296741_153296742insA GRCh37
NC_000023.9:g.152949935_152949936insA NCBI36
NG_007107.2:g.110837_110838insT
NG_007107.3:g.110813_110814insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.537_538insT MANE Plus Clinical ENSP00000301948.6:p.Lys180Ter
ENST00000453960.7:c.573_574insT MANE Select ENSP00000395535.2:p.Lys192Ter
ENST00000637917.1:c.65+105_65+106insT
ENST00000303391.10:c.537_538insT ENSP00000301948.6:p.Lys180Ter
ENST00000407218.5:c.469-5_469-4insT ENSP00000384865.2:n.469-5_469-4insT
ENST00000453960.6:c.573_574insT ENSP00000395535.2:p.Lys192Ter
ENST00000486506.5:n.2885_2886insT
ENST00000619732.4:c.537_538insT ENSP00000480973.1:p.Lys180Ter
ENST00000622433.4:c.525_526insT ENSP00000484470.1:p.Lys176Ter
ENST00000628176.2:c.433-5_433-4insT ENSP00000486978.1:n.433-5_433-4insT
NM_001110792.1:c.573_574insT NP_001104262.1:p.Lys192Ter
NM_001316337.1:c.258_259insT NP_001303266.1:p.Lys87Ter
NM_004992.3:c.537_538insT NP_004983.1:p.Lys180Ter
XM_005274681.3:c.537_538insT XP_005274738.1:p.Lys180Ter
XM_005274682.3:c.258_259insT XP_005274739.1:p.Lys87Ter
XM_005274683.3:c.258_259insT XP_005274740.1:p.Lys87Ter
XM_006724819.2:c.-128-5_-128-4insT XP_006724882.1:n.-128-5_-128-4insT
XM_011531166.1:c.258_259insT XP_011529468.1:p.Lys87Ter
XM_006724819.3:c.-128-5_-128-4insT XP_006724882.1:n.-128-5_-128-4insT
XM_011531166.2:c.258_259insT XP_011529468.1:p.Lys87Ter
XM_024452383.1:c.258_259insT XP_024308151.1:p.Lys87Ter
XM_024452384.1:c.258_259insT XP_024308152.1:p.Lys87Ter
NM_001110792.2:c.573_574insT MANE Select NP_001104262.1:p.Lys192Ter
NM_001316337.2:c.258_259insT NP_001303266.1:p.Lys87Ter
NM_001369391.2:c.258_259insT NP_001356320.1:p.Lys87Ter
NM_001369392.2:c.258_259insT NP_001356321.1:p.Lys87Ter
NM_001369393.2:c.258_259insT NP_001356322.1:p.Lys87Ter
NM_001369394.1:c.258_259insT NP_001356323.1:p.Lys87Ter
NM_001369394.2:c.258_259insT NP_001356323.1:p.Lys87Ter
NM_001386137.1:c.-128-5_-128-4insT NP_001373066.1:n.-128-5_-128-4insT
NM_001386138.1:c.-128-5_-128-4insT NP_001373067.1:n.-128-5_-128-4insT
NM_001386139.1:c.-128-5_-128-4insT NP_001373068.1:n.-128-5_-128-4insT
NM_004992.4:c.537_538insT MANE Plus Clinical NP_004983.1:p.Lys180Ter