Canonical Allele Identifier: CA2243922986

Gene: TRPV3

Linked Data

• dbSNP Id: rs2074271309

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524072_3524082del , CM000679.2:g.3524072_3524082del	GRCh38
NC_000017.10:g.3427366_3427376del , CM000679.1:g.3427366_3427376del	GRCh37
NC_000017.9:g.3374116_3374126del	NCBI36
NG_032144.2:g.38915_38925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1743+117_1743+127del MANE Select	ENSP00000461518.2:n.1743+117_1743+127del
ENST00000301365.8:c.1743+117_1743+127del	ENSP00000301365.4:n.1743+117_1743+127del
ENST00000381913.8:c.1005+117_1005+127del
ENST00000571139.5:c.*1735+117_*1735+127del	ENSP00000458187.1:n.*1735+117_*1735+127del
ENST00000572519.1:c.1743+117_1743+127del	ENSP00000460215.1:n.1743+117_1743+127del
ENST00000573539.5:c.*1753+117_*1753+127del	ENSP00000458239.1:n.*1753+117_*1753+127del
ENST00000576742.5:c.1743+117_1743+127del	ENSP00000461518.1:n.1743+117_1743+127del
ENST00000577016.5:c.328+2773_328+2783del
ENST00000616411.4:c.1695+117_1695+127del	ENSP00000483947.1:n.1695+117_1695+127del
NM_001258205.1:c.1743+117_1743+127del	NP_001245134.1:n.1743+117_1743+127del
NM_145068.3:c.1743+117_1743+127del	NP_659505.1:n.1743+117_1743+127del
XM_011523693.1:c.1577+2773_1577+2783del	XP_011521995.1:n.1577+2773_1577+2783del
XM_011523694.1:c.1038+117_1038+127del	XP_011521996.1:n.1038+117_1038+127del
XM_011523695.1:c.696+117_696+127del	XP_011521997.1:n.696+117_696+127del
XR_934004.1:n.1817+117_1817+127del
NM_001258205.2:c.1743+117_1743+127del	NP_001245134.1:n.1743+117_1743+127del
NM_145068.4:c.1743+117_1743+127del MANE Select	NP_659505.1:n.1743+117_1743+127del