Canonical Allele Identifier: CA2580101841

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2022598
• ClinVar RCV Id: RCV002852605

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030665_154031373delinsACGCA , CM000685.2:g.154030665_154031373delinsACGCA	GRCh38
NC_000023.10:g.153296116_153296824delinsACGCA , CM000685.1:g.153296116_153296824delinsACGCA	GRCh37
NC_000023.9:g.152949310_152950018delinsACGCA	NCBI36
NG_007107.2:g.110755_111463delinsTGCGT
NG_007107.3:g.110731_111439delinsTGCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.455_1163delinsTGCGT MANE Plus Clinical	ENSP00000301948.6:p.Pro152LeufsTer6
ENST00000453960.7:c.491_1199delinsTGCGT MANE Select	ENSP00000395535.2:p.Pro164LeufsTer6
ENST00000303391.10:c.455_1163delinsTGCGT	ENSP00000301948.6:p.Pro152LeufsTer6
ENST00000407218.5:c.468+23_*535delinsTGCGT
ENST00000453960.6:c.491_1199delinsTGCGT	ENSP00000395535.2:p.Pro164LeufsTer6
ENST00000619732.4:c.455_1163delinsTGCGT	ENSP00000480973.1:p.Pro152LeufsTer6
ENST00000628176.2:c.432+23_*535delinsTGCGT
NM_001110792.1:c.491_1199delinsTGCGT	NP_001104262.1:p.Pro164LeufsTer6
NM_001316337.1:c.176_884delinsTGCGT	NP_001303266.1:p.Pro59LeufsTer6
NM_004992.3:c.455_1163delinsTGCGT	NP_004983.1:p.Pro152LeufsTer6
XM_005274681.3:c.455_1163delinsTGCGT	XP_005274738.1:p.Pro152LeufsTer6
XM_005274682.3:c.176_884delinsTGCGT	XP_005274739.1:p.Pro59LeufsTer6
XM_005274683.3:c.176_884delinsTGCGT	XP_005274740.1:p.Pro59LeufsTer6
XM_006724819.2:c.-129+23_494delinsTGCGT
XM_011531166.1:c.176_884delinsTGCGT	XP_011529468.1:p.Pro59LeufsTer6
XM_006724819.3:c.-129+23_494delinsTGCGT
XM_011531166.2:c.176_884delinsTGCGT	XP_011529468.1:p.Pro59LeufsTer6
XM_024452383.1:c.176_884delinsTGCGT	XP_024308151.1:p.Pro59LeufsTer6
XM_024452384.1:c.176_884delinsTGCGT	XP_024308152.1:p.Pro59LeufsTer6
NM_001110792.2:c.491_1199delinsTGCGT MANE Select	NP_001104262.1:p.Pro164LeufsTer6
NM_001316337.2:c.176_884delinsTGCGT	NP_001303266.1:p.Pro59LeufsTer6
NM_001369391.2:c.176_884delinsTGCGT	NP_001356320.1:p.Pro59LeufsTer6
NM_001369392.2:c.176_884delinsTGCGT	NP_001356321.1:p.Pro59LeufsTer6
NM_001369393.2:c.176_884delinsTGCGT	NP_001356322.1:p.Pro59LeufsTer6
NM_001369394.1:c.176_884delinsTGCGT	NP_001356323.1:p.Pro59LeufsTer6
NM_001369394.2:c.176_884delinsTGCGT	NP_001356323.1:p.Pro59LeufsTer6
NM_001386137.1:c.-129+23_494delinsTGCGT
NM_001386138.1:c.-129+23_494delinsTGCGT
NM_001386139.1:c.-129+23_494delinsTGCGT
NM_004992.4:c.455_1163delinsTGCGT MANE Plus Clinical	NP_004983.1:p.Pro152LeufsTer6