Canonical Allele Identifier: CA2572099709

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524168_3524169insGC , CM000679.2:g.3524168_3524169insGC	GRCh38
NC_000017.10:g.3427462_3427463insGC , CM000679.1:g.3427462_3427463insGC	GRCh37
NC_000017.9:g.3374212_3374213insGC	NCBI36
NG_032144.2:g.38827_38828insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1743+29_1743+30insGC MANE Select	ENSP00000461518.2:n.1743+29_1743+30insGC
ENST00000301365.8:c.1743+29_1743+30insGC	ENSP00000301365.4:n.1743+29_1743+30insGC
ENST00000381913.8:c.1005+29_1005+30insGC
ENST00000571139.5:c.*1735+29_*1735+30insGC	ENSP00000458187.1:n.*1735+29_*1735+30insGC
ENST00000572519.1:c.1743+29_1743+30insGC	ENSP00000460215.1:n.1743+29_1743+30insGC
ENST00000573539.5:c.*1753+29_*1753+30insGC	ENSP00000458239.1:n.*1753+29_*1753+30insGC
ENST00000576742.5:c.1743+29_1743+30insGC	ENSP00000461518.1:n.1743+29_1743+30insGC
ENST00000577016.5:c.328+2685_328+2686insGC
ENST00000616411.4:c.1695+29_1695+30insGC	ENSP00000483947.1:n.1695+29_1695+30insGC
NM_001258205.1:c.1743+29_1743+30insGC	NP_001245134.1:n.1743+29_1743+30insGC
NM_145068.3:c.1743+29_1743+30insGC	NP_659505.1:n.1743+29_1743+30insGC
XM_011523693.1:c.1577+2685_1577+2686insGC	XP_011521995.1:n.1577+2685_1577+2686insGC
XM_011523694.1:c.1038+29_1038+30insGC	XP_011521996.1:n.1038+29_1038+30insGC
XM_011523695.1:c.696+29_696+30insGC	XP_011521997.1:n.696+29_696+30insGC
XR_934004.1:n.1817+29_1817+30insGC
NM_001258205.2:c.1743+29_1743+30insGC	NP_001245134.1:n.1743+29_1743+30insGC
NM_145068.4:c.1743+29_1743+30insGC MANE Select	NP_659505.1:n.1743+29_1743+30insGC