Canonical Allele Identifier: CA728335259

Gene: TRPV3

Linked Data

• dbSNP Id: rs1193109507
• MyVariant Identifiers: chr17:g.3427415_3427436del (hg19) ; chr17:g.3524121_3524142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524124_3524145del , CM000679.2:g.3524124_3524145del	GRCh38
NC_000017.10:g.3427418_3427439del , CM000679.1:g.3427418_3427439del	GRCh37
NC_000017.9:g.3374168_3374189del	NCBI36
NG_032144.2:g.38854_38875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.1743+56_1743+77del MANE Select	ENSP00000461518.2:n.1743+56_1743+77del
ENST00000301365.8:c.1743+56_1743+77del	ENSP00000301365.4:n.1743+56_1743+77del
ENST00000381913.8:c.1005+56_1005+77del
ENST00000571139.5:c.*1735+56_*1735+77del	ENSP00000458187.1:n.*1735+56_*1735+77del
ENST00000572519.1:c.1743+56_1743+77del	ENSP00000460215.1:n.1743+56_1743+77del
ENST00000573539.5:c.*1753+56_*1753+77del	ENSP00000458239.1:n.*1753+56_*1753+77del
ENST00000576742.5:c.1743+56_1743+77del	ENSP00000461518.1:n.1743+56_1743+77del
ENST00000577016.5:c.328+2712_328+2733del
ENST00000616411.4:c.1695+56_1695+77del	ENSP00000483947.1:n.1695+56_1695+77del
NM_001258205.1:c.1743+56_1743+77del	NP_001245134.1:n.1743+56_1743+77del
NM_145068.3:c.1743+56_1743+77del	NP_659505.1:n.1743+56_1743+77del
XM_011523693.1:c.1577+2712_1577+2733del	XP_011521995.1:n.1577+2712_1577+2733del
XM_011523694.1:c.1038+56_1038+77del	XP_011521996.1:n.1038+56_1038+77del
XM_011523695.1:c.696+56_696+77del	XP_011521997.1:n.696+56_696+77del
XR_934004.1:n.1817+56_1817+77del
NM_001258205.2:c.1743+56_1743+77del	NP_001245134.1:n.1743+56_1743+77del
NM_145068.4:c.1743+56_1743+77del MANE Select	NP_659505.1:n.1743+56_1743+77del