Canonical Allele Identifier: CA1024175389

Gene: COMT

Linked Data

• gnomAD v3: 22-19962678-TGGGTGACACCAAGGAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCCCGGGAACGCACAGAGCGTGCTGGAGGCCATTGACACCTACTGCGAGCAGAAGGAGTGGGCCATGAACGTGGGCGACAAGAAAGGTGGGG-T
• gnomAD v4: 22-19962678-TGGGTGACACCAAGGAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCCCGGGAACGCACAGAGCGTGCTGGAGGCCATTGACACCTACTGCGAGCAGAAGGAGTGGGCCATGAACGTGGGCGACAAGAAAGGTGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19962679_19962821del , CM000684.2:g.19962679_19962821del	GRCh38
NC_000022.10:g.19950202_19950344del , CM000684.1:g.19950202_19950344del	GRCh37
NC_000022.9:g.18330202_18330344del	NCBI36
NG_011526.1:g.25940_26082del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.153_289+6del
ENST00000428707.2:c.153_289+6del
ENST00000676678.1:c.153_289+6del
ENST00000677397.1:c.3_139+6del
ENST00000678240.1:n.1_137+6del
ENST00000678255.1:c.153_289+6del
ENST00000678769.1:c.153_289+6del
ENST00000678868.1:c.153_289+6del
ENST00000207636.9:c.153_289+6del
ENST00000361682.10:c.153_289+6del
ENST00000403184.5:c.153_289+6del
ENST00000403710.5:c.153_289+6del
ENST00000406520.7:c.153_289+6del
ENST00000407537.5:c.153_289+6del
ENST00000412786.5:c.153_289+6del
ENST00000449653.5:c.3_139+6del
ENST00000467943.5:n.349_491del
NM_000754.3:c.153_289+6del
NM_001135161.1:c.153_289+6del
NM_001135162.1:c.153_289+6del
NM_007310.2:c.3_139+6del
XM_011529885.1:c.267_403+6del
XM_011529886.1:c.267_403+6del
XM_011529887.1:c.153_289+6del
XM_011529888.1:c.153_289+6del
XM_011529889.1:c.153_289+6del
XM_011529890.1:c.153_289+6del
XM_011529891.1:c.153_289+6del
NM_001362828.1:c.153_289+6del
XM_011529886.2:c.564_700+6del
XM_017028595.1:c.153_289+6del
NM_000754.4:c.153_289+6del
NM_001135161.2:c.153_289+6del
NM_001135162.2:c.153_289+6del
NM_001362828.2:c.153_289+6del
NM_007310.3:c.3_139+6del