Canonical Allele Identifier: CA2655333971

Gene: COMT

Linked Data

• gnomAD v4: 22-19963907-G-GGTCTTTCCTCAGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19963908_19963909insTCTTTCCTCAGCCCCAG , CM000684.2:g.19963908_19963909insTCTTTCCTCAGCCCCAG	GRCh38
NC_000022.10:g.19951431_19951432insTCTTTCCTCAGCCCCAG , CM000684.1:g.19951431_19951432insTCTTTCCTCAGCCCCAG	GRCh37
NC_000022.9:g.18331431_18331432insTCTTTCCTCAGCCCCAG	NCBI36
NG_011526.1:g.27169_27170insTCTTTCCTCAGCCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.483+149_483+150insTCTTTCCTCAGCCCCAG MANE Select	ENSP00000354511.6:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000428707.2:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000387695.2:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000676678.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000503719.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000677397.1:c.333+149_333+150insTCTTTCCTCAGCCCCAG	ENSP00000503422.1:n.333+149_333+150insTCTTTCCTCAGCCCCAG
ENST00000677470.1:n.74_75insTCTTTCCTCAGCCCCAG
ENST00000677564.1:n.266+149_266+150insTCTTTCCTCAGCCCCAG
ENST00000677675.1:n.283+149_283+150insTCTTTCCTCAGCCCCAG
ENST00000678240.1:n.331+149_331+150insTCTTTCCTCAGCCCCAG
ENST00000678255.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000504402.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000678769.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000503289.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000678868.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000503583.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000678945.1:n.293+149_293+150insTCTTTCCTCAGCCCCAG
ENST00000207636.9:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000207636.5:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000361682.10:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000354511.6:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000403184.5:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000383966.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000403710.5:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000385917.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000406520.7:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000385150.3:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000407537.5:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000384654.2:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000412786.5:c.483+149_483+150insTCTTTCCTCAGCCCCAG	ENSP00000403958.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
ENST00000428707.1:c.61+149_61+150insTCTTTCCTCAGCCCCAG
ENST00000449653.5:c.333+149_333+150insTCTTTCCTCAGCCCCAG	ENSP00000416778.1:n.333+149_333+150insTCTTTCCTCAGCCCCAG
ENST00000493893.1:n.221+149_221+150insTCTTTCCTCAGCCCCAG
NM_000754.3:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_000745.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_001135161.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_001128633.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_001135162.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_001128634.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_007310.2:c.333+149_333+150insTCTTTCCTCAGCCCCAG	NP_009294.1:n.333+149_333+150insTCTTTCCTCAGCCCCAG
XM_011529885.1:c.597+149_597+150insTCTTTCCTCAGCCCCAG	XP_011528187.1:n.597+149_597+150insTCTTTCCTCAGCCCCAG
XM_011529886.1:c.597+149_597+150insTCTTTCCTCAGCCCCAG	XP_011528188.1:n.597+149_597+150insTCTTTCCTCAGCCCCAG
XM_011529887.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	XP_011528189.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
XM_011529888.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	XP_011528190.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
XM_011529889.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	XP_011528191.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
XM_011529890.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	XP_011528192.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
XM_011529891.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	XP_011528193.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_001362828.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_001349757.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
XM_011529886.2:c.894+149_894+150insTCTTTCCTCAGCCCCAG	XP_011528188.2:n.894+149_894+150insTCTTTCCTCAGCCCCAG
XM_017028595.1:c.483+149_483+150insTCTTTCCTCAGCCCCAG	XP_016884084.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_000754.4:c.483+149_483+150insTCTTTCCTCAGCCCCAG MANE Select	NP_000745.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_001135161.2:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_001128633.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_001135162.2:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_001128634.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_001362828.2:c.483+149_483+150insTCTTTCCTCAGCCCCAG	NP_001349757.1:n.483+149_483+150insTCTTTCCTCAGCCCCAG
NM_007310.3:c.333+149_333+150insTCTTTCCTCAGCCCCAG	NP_009294.1:n.333+149_333+150insTCTTTCCTCAGCCCCAG