Canonical Allele Identifier: CA2635403830

Gene: TRPV3

Linked Data

• gnomAD v4: 17-3524328-AAGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524335_3524338del , CM000679.2:g.3524335_3524338del	GRCh38
NC_000017.10:g.3427629_3427632del , CM000679.1:g.3427629_3427632del	GRCh37
NC_000017.9:g.3374379_3374382del	NCBI36
NG_032144.2:g.38664_38667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1609_1612del MANE Select	ENSP00000461518.2:p.Val537SerfsTer?
ENST00000301365.8:c.1609_1612del	ENSP00000301365.4:p.Val537SerfsTer?
ENST00000381913.8:c.899-28_899-25del
ENST00000571139.5:c.*1601_*1604del	ENSP00000458187.1:n.*1601_*1604del
ENST00000572519.1:c.1609_1612del	ENSP00000460215.1:p.Val537SerfsTer?
ENST00000573539.5:c.*1647-28_*1647-25del	ENSP00000458239.1:n.*1647-28_*1647-25del
ENST00000576742.5:c.1609_1612del	ENSP00000461518.1:p.Val537SerfsTer?
ENST00000577016.5:c.328+2522_328+2525del
ENST00000616411.4:c.1561_1564del	ENSP00000483947.1:p.Val521SerfsTer?
NM_001258205.1:c.1609_1612del	NP_001245134.1:p.Val537SerfsTer?
NM_145068.3:c.1609_1612del	NP_659505.1:p.Val537SerfsTer?
XM_011523693.1:c.1577+2522_1577+2525del	XP_011521995.1:n.1577+2522_1577+2525del
XM_011523694.1:c.904_907del	XP_011521996.1:p.Val302SerfsTer?
XM_011523695.1:c.562_565del	XP_011521997.1:p.Val188SerfsTer?
XR_934004.1:n.1711-28_1711-25del
NM_001258205.2:c.1609_1612del	NP_001245134.1:p.Val537SerfsTer?
NM_145068.4:c.1609_1612del MANE Select	NP_659505.1:p.Val537SerfsTer?