Canonical Allele Identifier: CA2243923306

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524267_3524270delinsGCCC , CM000679.2:g.3524267_3524270delinsGCCC	GRCh38
NC_000017.10:g.3427561_3427564delinsGCCC , CM000679.1:g.3427561_3427564delinsGCCC	GRCh37
NC_000017.9:g.3374311_3374314delinsGCCC	NCBI36
NG_032144.2:g.38726_38729delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1671_1674delinsGGGC MANE Select	ENSP00000461518.2:p.Leu557=
ENST00000301365.8:c.1671_1674delinsGGGC	ENSP00000301365.4:p.Leu557=
ENST00000381913.8:c.933_936delinsGGGC
ENST00000571139.5:c.*1663_*1666delinsGGGC	ENSP00000458187.1:n.*1663_*1666delinsGGGC
ENST00000572519.1:c.1671_1674delinsGGGC	ENSP00000460215.1:p.Leu557=
ENST00000573539.5:c.*1681_*1684delinsGGGC	ENSP00000458239.1:n.*1681_*1684delinsGGGC
ENST00000576742.5:c.1671_1674delinsGGGC	ENSP00000461518.1:p.Leu557=
ENST00000577016.5:c.328+2584_328+2587delinsGGGC
ENST00000616411.4:c.1623_1626delinsGGGC	ENSP00000483947.1:p.Leu541=
NM_001258205.1:c.1671_1674delinsGGGC	NP_001245134.1:p.Leu557=
NM_145068.3:c.1671_1674delinsGGGC	NP_659505.1:p.Leu557=
XM_011523693.1:c.1577+2584_1577+2587delinsGGGC	XP_011521995.1:n.1577+2584_1577+2587delinsGGGC
XM_011523694.1:c.966_969delinsGGGC	XP_011521996.1:p.Leu322=
XM_011523695.1:c.624_627delinsGGGC	XP_011521997.1:p.Leu208=
XR_934004.1:n.1745_1748delinsGGGC
NM_001258205.2:c.1671_1674delinsGGGC	NP_001245134.1:p.Leu557=
NM_145068.4:c.1671_1674delinsGGGC MANE Select	NP_659505.1:p.Leu557=