Canonical Allele Identifier: CA980844900

Gene: TRPV3

Linked Data

• dbSNP Id: rs2074271450
• gnomAD v3: 17-3524074-ATTTGGGAG-A
• gnomAD v4: 17-3524074-ATTTGGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524075_3524082del , CM000679.2:g.3524075_3524082del	GRCh38
NC_000017.10:g.3427369_3427376del , CM000679.1:g.3427369_3427376del	GRCh37
NC_000017.9:g.3374119_3374126del	NCBI36
NG_032144.2:g.38914_38921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.1743+116_1743+123del MANE Select	ENSP00000461518.2:n.1743+116_1743+123del
ENST00000301365.8:c.1743+116_1743+123del	ENSP00000301365.4:n.1743+116_1743+123del
ENST00000381913.8:c.1005+116_1005+123del
ENST00000571139.5:c.*1735+116_*1735+123del	ENSP00000458187.1:n.*1735+116_*1735+123del
ENST00000572519.1:c.1743+116_1743+123del	ENSP00000460215.1:n.1743+116_1743+123del
ENST00000573539.5:c.*1753+116_*1753+123del	ENSP00000458239.1:n.*1753+116_*1753+123del
ENST00000576742.5:c.1743+116_1743+123del	ENSP00000461518.1:n.1743+116_1743+123del
ENST00000577016.5:c.328+2772_328+2779del
ENST00000616411.4:c.1695+116_1695+123del	ENSP00000483947.1:n.1695+116_1695+123del
NM_001258205.1:c.1743+116_1743+123del	NP_001245134.1:n.1743+116_1743+123del
NM_145068.3:c.1743+116_1743+123del	NP_659505.1:n.1743+116_1743+123del
XM_011523693.1:c.1577+2772_1577+2779del	XP_011521995.1:n.1577+2772_1577+2779del
XM_011523694.1:c.1038+116_1038+123del	XP_011521996.1:n.1038+116_1038+123del
XM_011523695.1:c.696+116_696+123del	XP_011521997.1:n.696+116_696+123del
XR_934004.1:n.1817+116_1817+123del
NM_001258205.2:c.1743+116_1743+123del	NP_001245134.1:n.1743+116_1743+123del
NM_145068.4:c.1743+116_1743+123del MANE Select	NP_659505.1:n.1743+116_1743+123del