Canonical Allele Identifier: CA2655332910

Gene: COMT

Linked Data

• gnomAD v4: 22-19962726-CGGAGCCCGGGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19962727_19962738del , CM000684.2:g.19962727_19962738del	GRCh38
NC_000022.10:g.19950250_19950261del , CM000684.1:g.19950250_19950261del	GRCh37
NC_000022.9:g.18330250_18330261del	NCBI36
NG_011526.1:g.25988_25999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.201_212del MANE Select	ENSP00000354511.6:p.Glu68_Asn71del
ENST00000428707.2:c.201_212del	ENSP00000387695.2:p.Glu68_Asn71del
ENST00000676678.1:c.201_212del	ENSP00000503719.1:p.Glu68_Asn71del
ENST00000677397.1:c.51_62del	ENSP00000503422.1:p.Glu18_Asn21del
ENST00000678240.1:n.49_60del
ENST00000678255.1:c.201_212del	ENSP00000504402.1:p.Glu68_Asn71del
ENST00000678769.1:c.201_212del	ENSP00000503289.1:p.Glu68_Asn71del
ENST00000678868.1:c.201_212del	ENSP00000503583.1:p.Glu68_Asn71del
ENST00000207636.9:c.201_212del	ENSP00000207636.5:p.Glu68_Asn71del
ENST00000361682.10:c.201_212del	ENSP00000354511.6:p.Glu68_Asn71del
ENST00000403184.5:c.201_212del	ENSP00000383966.1:p.Glu68_Asn71del
ENST00000403710.5:c.201_212del	ENSP00000385917.1:p.Glu68_Asn71del
ENST00000406520.7:c.201_212del	ENSP00000385150.3:p.Glu68_Asn71del
ENST00000407537.5:c.201_212del	ENSP00000384654.2:p.Glu68_Asn71del
ENST00000412786.5:c.201_212del	ENSP00000403958.1:p.Glu68_Asn71del
ENST00000449653.5:c.51_62del	ENSP00000416778.1:p.Glu18_Asn21del
ENST00000467943.5:n.397_408del
NM_000754.3:c.201_212del	NP_000745.1:p.Glu68_Asn71del
NM_001135161.1:c.201_212del	NP_001128633.1:p.Glu68_Asn71del
NM_001135162.1:c.201_212del	NP_001128634.1:p.Glu68_Asn71del
NM_007310.2:c.51_62del	NP_009294.1:p.Glu18_Asn21del
XM_011529885.1:c.315_326del	XP_011528187.1:p.Glu106_Asn109del
XM_011529886.1:c.315_326del	XP_011528188.1:p.Glu106_Asn109del
XM_011529887.1:c.201_212del	XP_011528189.1:p.Glu68_Asn71del
XM_011529888.1:c.201_212del	XP_011528190.1:p.Glu68_Asn71del
XM_011529889.1:c.201_212del	XP_011528191.1:p.Glu68_Asn71del
XM_011529890.1:c.201_212del	XP_011528192.1:p.Glu68_Asn71del
XM_011529891.1:c.201_212del	XP_011528193.1:p.Glu68_Asn71del
NM_001362828.1:c.201_212del	NP_001349757.1:p.Glu68_Asn71del
XM_011529886.2:c.612_623del	XP_011528188.2:p.Glu205_Asn208del
XM_017028595.1:c.201_212del	XP_016884084.1:p.Glu68_Asn71del
NM_000754.4:c.201_212del MANE Select	NP_000745.1:p.Glu68_Asn71del
NM_001135161.2:c.201_212del	NP_001128633.1:p.Glu68_Asn71del
NM_001135162.2:c.201_212del	NP_001128634.1:p.Glu68_Asn71del
NM_001362828.2:c.201_212del	NP_001349757.1:p.Glu68_Asn71del
NM_007310.3:c.51_62del	NP_009294.1:p.Glu18_Asn21del