Canonical Allele Identifier: CA10104669

Gene: COMT

Linked Data

• dbSNP Id: rs563298832
• ExAC: 22:19951869 CCATT / C
• gnomAD v2: 22-19951869-CCATT-C
• gnomAD v3: 22-19964346-CCATT-C
• gnomAD v4: 22-19964346-CCATT-C
• MyVariant Identifiers: chr22:g.19951870_19951873del (hg19) ; chr22:g.19964348_19964351del (hg38) ; chr22:g.19964347_19964350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964349_19964352del , CM000684.2:g.19964349_19964352del	GRCh38
NC_000022.10:g.19951872_19951875del , CM000684.1:g.19951872_19951875del	GRCh37
NC_000022.9:g.18331872_18331875del	NCBI36
NG_011526.1:g.27610_27613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.615+50_615+53del MANE Select	ENSP00000354511.6:n.615+50_615+53del
ENST00000428707.2:c.615+50_615+53del	ENSP00000387695.2:n.615+50_615+53del
ENST00000676678.1:c.615+50_615+53del	ENSP00000503719.1:n.615+50_615+53del
ENST00000677397.1:c.465+50_465+53del	ENSP00000503422.1:n.465+50_465+53del
ENST00000677470.1:n.465+50_465+53del
ENST00000677564.1:n.398+50_398+53del
ENST00000677675.1:n.415+50_415+53del
ENST00000678240.1:n.513_516del
ENST00000678255.1:c.615+50_615+53del	ENSP00000504402.1:n.615+50_615+53del
ENST00000678769.1:c.615+50_615+53del	ENSP00000503289.1:n.615+50_615+53del
ENST00000678868.1:c.615+50_615+53del	ENSP00000503583.1:n.615+50_615+53del
ENST00000678945.1:n.483+50_483+53del
ENST00000207636.9:c.*73+50_*73+53del	ENSP00000207636.5:n.*73+50_*73+53del
ENST00000361682.10:c.615+50_615+53del	ENSP00000354511.6:n.615+50_615+53del
ENST00000403184.5:c.665_668del	ENSP00000383966.1:p.Ile222SerfsTer?
ENST00000403710.5:c.615+50_615+53del	ENSP00000385917.1:n.615+50_615+53del
ENST00000406520.7:c.615+50_615+53del	ENSP00000385150.3:n.615+50_615+53del
ENST00000407537.5:c.615+50_615+53del	ENSP00000384654.2:n.615+50_615+53del
ENST00000412786.5:c.615+50_615+53del	ENSP00000403958.1:n.615+50_615+53del
ENST00000428707.1:c.193+50_193+53del
ENST00000449653.5:c.465+50_465+53del	ENSP00000416778.1:n.465+50_465+53del
NM_000754.3:c.615+50_615+53del	NP_000745.1:n.615+50_615+53del
NM_001135161.1:c.615+50_615+53del	NP_001128633.1:n.615+50_615+53del
NM_001135162.1:c.615+50_615+53del	NP_001128634.1:n.615+50_615+53del
NM_007310.2:c.465+50_465+53del	NP_009294.1:n.465+50_465+53del
XM_011529885.1:c.729+50_729+53del	XP_011528187.1:n.729+50_729+53del
XM_011529886.1:c.729+50_729+53del	XP_011528188.1:n.729+50_729+53del
XM_011529887.1:c.615+50_615+53del	XP_011528189.1:n.615+50_615+53del
XM_011529888.1:c.615+50_615+53del	XP_011528190.1:n.615+50_615+53del
XM_011529889.1:c.615+50_615+53del	XP_011528191.1:n.615+50_615+53del
XM_011529890.1:c.615+50_615+53del	XP_011528192.1:n.615+50_615+53del
XM_011529891.1:c.615+50_615+53del	XP_011528193.1:n.615+50_615+53del
NM_001362828.1:c.615+50_615+53del	NP_001349757.1:n.615+50_615+53del
XM_011529886.2:c.1026+50_1026+53del	XP_011528188.2:n.1026+50_1026+53del
XM_017028595.1:c.615+50_615+53del	XP_016884084.1:n.615+50_615+53del
NM_000754.4:c.615+50_615+53del MANE Select	NP_000745.1:n.615+50_615+53del
NM_001135161.2:c.615+50_615+53del	NP_001128633.1:n.615+50_615+53del
NM_001135162.2:c.615+50_615+53del	NP_001128634.1:n.615+50_615+53del
NM_001362828.2:c.615+50_615+53del	NP_001349757.1:n.615+50_615+53del
NM_007310.3:c.465+50_465+53del	NP_009294.1:n.465+50_465+53del