Canonical Allele Identifier: CA2655331223

Gene: COMT

Linked Data

• gnomAD v4: 22-19961572-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19961573_19961574del , CM000684.2:g.19961573_19961574del	GRCh38
NC_000022.10:g.19949096_19949097del , CM000684.1:g.19949096_19949097del	GRCh37
NC_000022.9:g.18329096_18329097del	NCBI36
NG_011526.1:g.24834_24835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-1+284_-1+285del MANE Select	ENSP00000354511.6:n.-1+284_-1+285del
ENST00000428707.2:c.-1+284_-1+285del	ENSP00000387695.2:n.-1+284_-1+285del
ENST00000676678.1:c.-1+284_-1+285del	ENSP00000503719.1:n.-1+284_-1+285del
ENST00000678255.1:c.-830-124_-830-123del	ENSP00000504402.1:n.-830-124_-830-123del
ENST00000678769.1:c.-1+284_-1+285del	ENSP00000503289.1:n.-1+284_-1+285del
ENST00000678868.1:c.-1+284_-1+285del	ENSP00000503583.1:n.-1+284_-1+285del
ENST00000207636.9:c.-1+284_-1+285del	ENSP00000207636.5:n.-1+284_-1+285del
ENST00000361682.10:c.-1+284_-1+285del	ENSP00000354511.6:n.-1+284_-1+285del
ENST00000403184.5:c.-1+284_-1+285del	ENSP00000383966.1:n.-1+284_-1+285del
ENST00000403710.5:c.-295+284_-295+285del	ENSP00000385917.1:n.-295+284_-295+285del
ENST00000406520.7:c.-1+284_-1+285del	ENSP00000385150.3:n.-1+284_-1+285del
ENST00000407537.5:c.-178-124_-178-123del	ENSP00000384654.2:n.-178-124_-178-123del
ENST00000412786.5:c.-1+284_-1+285del	ENSP00000403958.1:n.-1+284_-1+285del
ENST00000467943.5:n.196+284_196+285del
NM_000754.3:c.-1+284_-1+285del	NP_000745.1:n.-1+284_-1+285del
NM_001135161.1:c.-1+284_-1+285del	NP_001128633.1:n.-1+284_-1+285del
NM_001135162.1:c.-1+284_-1+285del	NP_001128634.1:n.-1+284_-1+285del
XM_011529885.1:c.114+284_114+285del	XP_011528187.1:n.114+284_114+285del
XM_011529886.1:c.114+284_114+285del	XP_011528188.1:n.114+284_114+285del
XM_011529887.1:c.-1+284_-1+285del	XP_011528189.1:n.-1+284_-1+285del
XM_011529888.1:c.-1+284_-1+285del	XP_011528190.1:n.-1+284_-1+285del
XM_011529889.1:c.-1+284_-1+285del	XP_011528191.1:n.-1+284_-1+285del
XM_011529890.1:c.-295+284_-295+285del	XP_011528192.1:n.-295+284_-295+285del
XM_011529891.1:c.-295+284_-295+285del	XP_011528193.1:n.-295+284_-295+285del
NM_001362828.1:c.-295+284_-295+285del	NP_001349757.1:n.-295+284_-295+285del
XM_011529886.2:c.411+284_411+285del	XP_011528188.2:n.411+284_411+285del
XM_017028595.1:c.-295+284_-295+285del	XP_016884084.1:n.-295+284_-295+285del
NM_000754.4:c.-1+284_-1+285del MANE Select	NP_000745.1:n.-1+284_-1+285del
NM_001135161.2:c.-1+284_-1+285del	NP_001128633.1:n.-1+284_-1+285del
NM_001135162.2:c.-1+284_-1+285del	NP_001128634.1:n.-1+284_-1+285del
NM_001362828.2:c.-295+284_-295+285del	NP_001349757.1:n.-295+284_-295+285del