Canonical Allele Identifier: CA2243923043
Gene: TRPV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524120_3524142delinsCTCTCCAGATCTCAGTTTCCCCA , CM000679.2:g.3524120_3524142delinsCTCTCCAGATCTCAGTTTCCCCA GRCh38
NC_000017.10:g.3427414_3427436delinsCTCTCCAGATCTCAGTTTCCCCA , CM000679.1:g.3427414_3427436delinsCTCTCCAGATCTCAGTTTCCCCA GRCh37
NC_000017.9:g.3374164_3374186delinsCTCTCCAGATCTCAGTTTCCCCA NCBI36
NG_032144.2:g.38854_38876delinsTGGGGAAACTGAGATCTGGAGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG MANE Select ENSP00000461518.2:n.1743+56_1743+78delins...
ENST00000301365.8:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG ENSP00000301365.4:n.1743+56_1743+78delins...
ENST00000381913.8:c.1005+56_1005+78delinsTGGGGAAACTGAGATCTGGAGAG
ENST00000571139.5:c.*1735+56_*1735+78delinsTGGGGAAACTGAGATCTGGAGAG ENSP00000458187.1:n.*1735+56_*1735+78deli...
ENST00000572519.1:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG ENSP00000460215.1:n.1743+56_1743+78delins...
ENST00000573539.5:c.*1753+56_*1753+78delinsTGGGGAAACTGAGATCTGGAGAG ENSP00000458239.1:n.*1753+56_*1753+78deli...
ENST00000576742.5:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG ENSP00000461518.1:n.1743+56_1743+78delins...
ENST00000577016.5:c.328+2712_328+2734delinsTGGGGAAACTGAGATCTGGAGAG
ENST00000616411.4:c.1695+56_1695+78delinsTGGGGAAACTGAGATCTGGAGAG ENSP00000483947.1:n.1695+56_1695+78delins...
NM_001258205.1:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG NP_001245134.1:n.1743+56_1743+78delinsTGG...
NM_145068.3:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG NP_659505.1:n.1743+56_1743+78delinsTGGGGA...
XM_011523693.1:c.1577+2712_1577+2734delinsTGGGGAAACTGAGATCTGGAGAG XP_011521995.1:n.1577+2712_1577+2734delin...
XM_011523694.1:c.1038+56_1038+78delinsTGGGGAAACTGAGATCTGGAGAG XP_011521996.1:n.1038+56_1038+78delinsTGG...
XM_011523695.1:c.696+56_696+78delinsTGGGGAAACTGAGATCTGGAGAG XP_011521997.1:n.696+56_696+78delinsTGGGG...
XR_934004.1:n.1817+56_1817+78delinsTGGGGAAACTGAGATCTGGAGAG
NM_001258205.2:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG NP_001245134.1:n.1743+56_1743+78delinsTGG...
NM_145068.4:c.1743+56_1743+78delinsTGGGGAAACTGAGATCTGGAGAG MANE Select NP_659505.1:n.1743+56_1743+78delinsTGGGGA...