Canonical Allele Identifier: CA2825001736
Community Standard Title: NM_004621.6(TRPC6):c.2619_2626del (p.Asp873GlufsTer2)
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101453671_101453678del , CM000673.2:g.101453671_101453678del GRCh38
NC_000011.9:g.101324402_101324409del , CM000673.1:g.101324402_101324409del GRCh37
NC_000011.8:g.100829612_100829619del NCBI36
NG_011476.1:g.135254_135261del
NG_011476.2:g.135254_135261del

Transcript Alleles

HGVS Amino-acid Change
NM_004621.6:c.2619_2626del MANE Select NP_004612.2:p.Asp873GlufsTer2
ENST00000344327.8:c.2619_2626del MANE Select ENSP00000340913.3:p.Asp873GlufsTer2
NM_004621.5:c.2619_2626del NP_004612.2:p.Asp873GlufsTer2
ENST00000344327.7:c.2619_2626del ENSP00000340913.3:p.Asp873GlufsTer2
ENST00000348423.8:c.2271_2278del ENSP00000343672.4:p.Asp757GlufsTer2
ENST00000360497.4:c.2454_2461del ENSP00000353687.4:p.Asp818GlufsTer2
ENST00000532133.5:c.2385_2392del ENSP00000435574.1:p.Asp795GlufsTer2
ENST00000532184.1:n.611_618del
XM_006718898.2:c.2544_2551del XP_006718961.1:p.Asp848GlufsTer2
XM_011542968.1:c.2454_2461del XP_011541270.1:p.Asp818GlufsTer2
XM_011542968.3:c.2454_2461del XP_011541270.1:p.Asp818GlufsTer2
XM_017018221.2:c.2271_2278del XP_016873710.1:p.Asp757GlufsTer2
XR_001747948.2:n.2976_2983del