Canonical Allele Identifier: CA638504534

Gene: COMT

Linked Data

• gnomAD v2: 22-19951603-G-GCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGGGATGGCCTCCTGTCTGTGAGGA
• MyVariant Identifiers: chr22:g.19951603_19951604insCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGGGATGGCCTCCTGTCTGTGAGGA (hg19) ; chr22:g.19964080_19964081insCGTGGGCACTGACAGGCGCTGTTGTATAGGTGTGTAGGGATGGCCTCCTGTCTGTGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964104_19964163dup , CM000684.2:g.19964104_19964163dup	GRCh38
NC_000022.10:g.19951627_19951686dup , CM000684.1:g.19951627_19951686dup	GRCh37
NC_000022.9:g.18331627_18331686dup	NCBI36
NG_011526.1:g.27365_27424dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.484-64_484-5dup MANE Select	ENSP00000354511.6:n.484-64_484-5dup
ENST00000428707.2:c.484-64_484-5dup	ENSP00000387695.2:n.484-64_484-5dup
ENST00000676678.1:c.484-64_484-5dup	ENSP00000503719.1:n.484-64_484-5dup
ENST00000677397.1:c.334-64_334-5dup	ENSP00000503422.1:n.334-64_334-5dup
ENST00000677470.1:n.270_329dup
ENST00000677564.1:n.267-64_267-5dup
ENST00000677675.1:n.284-64_284-5dup
ENST00000678240.1:n.332-64_332-5dup
ENST00000678255.1:c.484-64_484-5dup	ENSP00000504402.1:n.484-64_484-5dup
ENST00000678769.1:c.484-64_484-5dup	ENSP00000503289.1:n.484-64_484-5dup
ENST00000678868.1:c.484-64_484-5dup	ENSP00000503583.1:n.484-64_484-5dup
ENST00000678945.1:n.294-6_347dup
ENST00000207636.9:c.484-6_537dup
ENST00000361682.10:c.484-64_484-5dup	ENSP00000354511.6:n.484-64_484-5dup
ENST00000403184.5:c.484-64_484-5dup	ENSP00000383966.1:n.484-64_484-5dup
ENST00000403710.5:c.484-64_484-5dup	ENSP00000385917.1:n.484-64_484-5dup
ENST00000406520.7:c.484-64_484-5dup	ENSP00000385150.3:n.484-64_484-5dup
ENST00000407537.5:c.484-64_484-5dup	ENSP00000384654.2:n.484-64_484-5dup
ENST00000412786.5:c.484-64_484-5dup	ENSP00000403958.1:n.484-64_484-5dup
ENST00000428707.1:c.62-64_62-5dup
ENST00000449653.5:c.334-64_334-5dup	ENSP00000416778.1:n.334-64_334-5dup
ENST00000493893.1:n.222-64_222-5dup
NM_000754.3:c.484-64_484-5dup	NP_000745.1:n.484-64_484-5dup
NM_001135161.1:c.484-64_484-5dup	NP_001128633.1:n.484-64_484-5dup
NM_001135162.1:c.484-64_484-5dup	NP_001128634.1:n.484-64_484-5dup
NM_007310.2:c.334-64_334-5dup	NP_009294.1:n.334-64_334-5dup
XM_011529885.1:c.598-64_598-5dup	XP_011528187.1:n.598-64_598-5dup
XM_011529886.1:c.598-64_598-5dup	XP_011528188.1:n.598-64_598-5dup
XM_011529887.1:c.484-64_484-5dup	XP_011528189.1:n.484-64_484-5dup
XM_011529888.1:c.484-64_484-5dup	XP_011528190.1:n.484-64_484-5dup
XM_011529889.1:c.484-64_484-5dup	XP_011528191.1:n.484-64_484-5dup
XM_011529890.1:c.484-64_484-5dup	XP_011528192.1:n.484-64_484-5dup
XM_011529891.1:c.484-64_484-5dup	XP_011528193.1:n.484-64_484-5dup
NM_001362828.1:c.484-64_484-5dup	NP_001349757.1:n.484-64_484-5dup
XM_011529886.2:c.895-64_895-5dup	XP_011528188.2:n.895-64_895-5dup
XM_017028595.1:c.484-64_484-5dup	XP_016884084.1:n.484-64_484-5dup
NM_000754.4:c.484-64_484-5dup MANE Select	NP_000745.1:n.484-64_484-5dup
NM_001135161.2:c.484-64_484-5dup	NP_001128633.1:n.484-64_484-5dup
NM_001135162.2:c.484-64_484-5dup	NP_001128634.1:n.484-64_484-5dup
NM_001362828.2:c.484-64_484-5dup	NP_001349757.1:n.484-64_484-5dup
NM_007310.3:c.334-64_334-5dup	NP_009294.1:n.334-64_334-5dup