Canonical Allele Identifier: CA2793388087
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101473706_101473707insTTTT , CM000673.2:g.101473706_101473707insTTTT GRCh38
NC_000011.9:g.101344437_101344438insTTTT , CM000673.1:g.101344437_101344438insTTTT GRCh37
NC_000011.8:g.100849647_100849648insTTTT NCBI36
NG_011476.1:g.115222_115223insAAAA
NG_011476.2:g.115222_115223insAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000344327.8:c.1811_1812insAAAA MANE Select ENSP00000340913.3:p.Leu605LysfsTer6
ENST00000344327.7:c.1811_1812insAAAA ENSP00000340913.3:p.Leu605LysfsTer6
ENST00000348423.8:c.1463_1464insAAAA ENSP00000343672.4:p.Leu489LysfsTer6
ENST00000360497.4:c.1646_1647insAAAA ENSP00000353687.4:p.Leu550LysfsTer6
ENST00000532133.5:c.1577_1578insAAAA ENSP00000435574.1:p.Leu527LysfsTer6
NM_004621.5:c.1811_1812insAAAA NP_004612.2:p.Leu605LysfsTer6
XM_006718898.2:c.1811_1812insAAAA XP_006718961.1:p.Leu605LysfsTer6
XM_011542968.1:c.1646_1647insAAAA XP_011541270.1:p.Leu550LysfsTer6
XM_011542969.1:c.1811_1812insAAAA XP_011541271.1:p.Leu605LysfsTer6
XM_011542968.3:c.1646_1647insAAAA XP_011541270.1:p.Leu550LysfsTer6
XM_017018221.2:c.1463_1464insAAAA XP_016873710.1:p.Leu489LysfsTer6
XR_001747948.2:n.2167_2168insAAAA
NM_004621.6:c.1811_1812insAAAA MANE Select NP_004612.2:p.Leu605LysfsTer6