Canonical Allele Identifier: CA1024133802

Gene: COMT

Linked Data

• dbSNP Id: rs1942336537
• gnomAD v3: 22-19965429-CCT-C
• gnomAD v4: 22-19965429-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19965432_19965433del , CM000684.2:g.19965432_19965433del	GRCh38
NC_000022.10:g.19952955_19952956del , CM000684.1:g.19952955_19952956del	GRCh37
NC_000022.9:g.18332955_18332956del	NCBI36
NG_011526.1:g.28693_28694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.615+1133_615+1134del MANE Select	ENSP00000354511.6:n.615+1133_615+1134del
ENST00000428707.2:c.615+1133_615+1134del	ENSP00000387695.2:n.615+1133_615+1134del
ENST00000676678.1:c.615+1133_615+1134del	ENSP00000503719.1:n.615+1133_615+1134del
ENST00000677397.1:c.465+1133_465+1134del	ENSP00000503422.1:n.465+1133_465+1134del
ENST00000677470.1:n.465+1133_465+1134del
ENST00000677564.1:n.398+1133_398+1134del
ENST00000677675.1:n.415+1133_415+1134del
ENST00000678255.1:c.615+1133_615+1134del	ENSP00000504402.1:n.615+1133_615+1134del
ENST00000678769.1:c.615+1133_615+1134del	ENSP00000503289.1:n.615+1133_615+1134del
ENST00000678868.1:c.615+1133_615+1134del	ENSP00000503583.1:n.615+1133_615+1134del
ENST00000678945.1:n.483+1133_483+1134del
ENST00000207636.9:c.*73+1133_*73+1134del	ENSP00000207636.5:n.*73+1133_*73+1134del
ENST00000361682.10:c.615+1133_615+1134del	ENSP00000354511.6:n.615+1133_615+1134del
ENST00000403184.5:c.*1040_*1041del	ENSP00000383966.1:n.*1040_*1041del
ENST00000403710.5:c.615+1133_615+1134del	ENSP00000385917.1:n.615+1133_615+1134del
ENST00000406520.7:c.615+1133_615+1134del	ENSP00000385150.3:n.615+1133_615+1134del
ENST00000407537.5:c.615+1133_615+1134del	ENSP00000384654.2:n.615+1133_615+1134del
ENST00000412786.5:c.615+1133_615+1134del	ENSP00000403958.1:n.615+1133_615+1134del
ENST00000428707.1:c.193+1133_193+1134del
ENST00000449653.5:c.465+1133_465+1134del	ENSP00000416778.1:n.465+1133_465+1134del
NM_000754.3:c.615+1133_615+1134del	NP_000745.1:n.615+1133_615+1134del
NM_001135161.1:c.615+1133_615+1134del	NP_001128633.1:n.615+1133_615+1134del
NM_001135162.1:c.615+1133_615+1134del	NP_001128634.1:n.615+1133_615+1134del
NM_007310.2:c.465+1133_465+1134del	NP_009294.1:n.465+1133_465+1134del
XM_011529885.1:c.729+1133_729+1134del	XP_011528187.1:n.729+1133_729+1134del
XM_011529886.1:c.729+1133_729+1134del	XP_011528188.1:n.729+1133_729+1134del
XM_011529887.1:c.615+1133_615+1134del	XP_011528189.1:n.615+1133_615+1134del
XM_011529888.1:c.615+1133_615+1134del	XP_011528190.1:n.615+1133_615+1134del
XM_011529889.1:c.615+1133_615+1134del	XP_011528191.1:n.615+1133_615+1134del
XM_011529890.1:c.615+1133_615+1134del	XP_011528192.1:n.615+1133_615+1134del
XM_011529891.1:c.615+1133_615+1134del	XP_011528193.1:n.615+1133_615+1134del
NM_001362828.1:c.615+1133_615+1134del	NP_001349757.1:n.615+1133_615+1134del
XM_011529886.2:c.1026+1133_1026+1134del	XP_011528188.2:n.1026+1133_1026+1134del
XM_017028595.1:c.615+1133_615+1134del	XP_016884084.1:n.615+1133_615+1134del
NM_000754.4:c.615+1133_615+1134del MANE Select	NP_000745.1:n.615+1133_615+1134del
NM_001135161.2:c.615+1133_615+1134del	NP_001128633.1:n.615+1133_615+1134del
NM_001135162.2:c.615+1133_615+1134del	NP_001128634.1:n.615+1133_615+1134del
NM_001362828.2:c.615+1133_615+1134del	NP_001349757.1:n.615+1133_615+1134del
NM_007310.3:c.465+1133_465+1134del	NP_009294.1:n.465+1133_465+1134del