Canonical Allele Identifier: CA2635403825

Gene: TRPV3

Linked Data

• gnomAD v4: 17-3524185-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524189_3524190del , CM000679.2:g.3524189_3524190del	GRCh38
NC_000017.10:g.3427483_3427484del , CM000679.1:g.3427483_3427484del	GRCh37
NC_000017.9:g.3374233_3374234del	NCBI36
NG_032144.2:g.38809_38810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1743+11_1743+12del MANE Select	ENSP00000461518.2:n.1743+11_1743+12del
ENST00000301365.8:c.1743+11_1743+12del	ENSP00000301365.4:n.1743+11_1743+12del
ENST00000381913.8:c.1005+11_1005+12del
ENST00000571139.5:c.*1735+11_*1735+12del	ENSP00000458187.1:n.*1735+11_*1735+12del
ENST00000572519.1:c.1743+11_1743+12del	ENSP00000460215.1:n.1743+11_1743+12del
ENST00000573539.5:c.*1753+11_*1753+12del	ENSP00000458239.1:n.*1753+11_*1753+12del
ENST00000576742.5:c.1743+11_1743+12del	ENSP00000461518.1:n.1743+11_1743+12del
ENST00000577016.5:c.328+2667_328+2668del
ENST00000616411.4:c.1695+11_1695+12del	ENSP00000483947.1:n.1695+11_1695+12del
NM_001258205.1:c.1743+11_1743+12del	NP_001245134.1:n.1743+11_1743+12del
NM_145068.3:c.1743+11_1743+12del	NP_659505.1:n.1743+11_1743+12del
XM_011523693.1:c.1577+2667_1577+2668del	XP_011521995.1:n.1577+2667_1577+2668del
XM_011523694.1:c.1038+11_1038+12del	XP_011521996.1:n.1038+11_1038+12del
XM_011523695.1:c.696+11_696+12del	XP_011521997.1:n.696+11_696+12del
XR_934004.1:n.1817+11_1817+12del
NM_001258205.2:c.1743+11_1743+12del	NP_001245134.1:n.1743+11_1743+12del
NM_145068.4:c.1743+11_1743+12del MANE Select	NP_659505.1:n.1743+11_1743+12del