Canonical Allele Identifier: CA2243922983

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524070_3524081delinsTGGCATTTGGGA , CM000679.2:g.3524070_3524081delinsTGGCATTTGGGA	GRCh38
NC_000017.10:g.3427364_3427375delinsTGGCATTTGGGA , CM000679.1:g.3427364_3427375delinsTGGCATTTGGGA	GRCh37
NC_000017.9:g.3374114_3374125delinsTGGCATTTGGGA	NCBI36
NG_032144.2:g.38915_38926delinsTCCCAAATGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1743+117_1743+128delinsTCCCAAATGCCA MANE Select	ENSP00000461518.2:n.1743+117_1743+128delinsTCCCAAATGCCA
ENST00000301365.8:c.1743+117_1743+128delinsTCCCAAATGCCA	ENSP00000301365.4:n.1743+117_1743+128delinsTCCCAAATGCCA
ENST00000381913.8:c.1005+117_1005+128delinsTCCCAAATGCCA
ENST00000571139.5:c.*1735+117_*1735+128delinsTCCCAAATGCCA	ENSP00000458187.1:n.*1735+117_*1735+128delinsTCCCAAATGCCA
ENST00000572519.1:c.1743+117_1743+128delinsTCCCAAATGCCA	ENSP00000460215.1:n.1743+117_1743+128delinsTCCCAAATGCCA
ENST00000573539.5:c.*1753+117_*1753+128delinsTCCCAAATGCCA	ENSP00000458239.1:n.*1753+117_*1753+128delinsTCCCAAATGCCA
ENST00000576742.5:c.1743+117_1743+128delinsTCCCAAATGCCA	ENSP00000461518.1:n.1743+117_1743+128delinsTCCCAAATGCCA
ENST00000577016.5:c.328+2773_328+2784delinsTCCCAAATGCCA
ENST00000616411.4:c.1695+117_1695+128delinsTCCCAAATGCCA	ENSP00000483947.1:n.1695+117_1695+128delinsTCCCAAATGCCA
NM_001258205.1:c.1743+117_1743+128delinsTCCCAAATGCCA	NP_001245134.1:n.1743+117_1743+128delinsTCCCAAATGCCA
NM_145068.3:c.1743+117_1743+128delinsTCCCAAATGCCA	NP_659505.1:n.1743+117_1743+128delinsTCCCAAATGCCA
XM_011523693.1:c.1577+2773_1577+2784delinsTCCCAAATGCCA	XP_011521995.1:n.1577+2773_1577+2784delinsTCCCAAATGCCA
XM_011523694.1:c.1038+117_1038+128delinsTCCCAAATGCCA	XP_011521996.1:n.1038+117_1038+128delinsTCCCAAATGCCA
XM_011523695.1:c.696+117_696+128delinsTCCCAAATGCCA	XP_011521997.1:n.696+117_696+128delinsTCCCAAATGCCA
XR_934004.1:n.1817+117_1817+128delinsTCCCAAATGCCA
NM_001258205.2:c.1743+117_1743+128delinsTCCCAAATGCCA	NP_001245134.1:n.1743+117_1743+128delinsTCCCAAATGCCA
NM_145068.4:c.1743+117_1743+128delinsTCCCAAATGCCA MANE Select	NP_659505.1:n.1743+117_1743+128delinsTCCCAAATGCCA