Canonical Allele Identifier: CA1469523906
Gene: FAM47E HGNC NCBI
FAM47E-STBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76277733_76277734delinsGT , CM000666.2:g.76277733_76277734delinsGT GRCh38
NC_000004.11:g.77198886_77198887delinsGT , CM000666.1:g.77198886_77198887delinsGT GRCh37
NC_000004.10:g.77417910_77417911delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424749.7:c.871-336_871-335delinsGT (FAM47E) MANE Select ENSP00000409423.2:n.871-336_871-335delins...
ENST00000651133.1:c.*253+5965_*253+5966delinsGT (FAM47E-STBD1) ENSP00000498232.1:n.*253+5965_*253+5966de...
ENST00000424749.6:c.871-336_871-335delinsGT (FAM47E) ENSP00000409423.2:n.871-336_871-335delins...
ENST00000502320.2:n.539-336_539-335delinsGT (FAM47E)
ENST00000509377.1:c.*407+5965_*407+5966delinsGT (FAM47E-STBD1) ENSP00000425528.2:n.*407+5965_*407+5966de...
ENST00000510197.5:c.577-336_577-335delinsGT (FAM47E) ENSP00000422262.1:n.577-336_577-335delins...
ENST00000510328.5:n.416-336_416-335delinsGT (FAM47E)
ENST00000514140.1:c.387+5965_387+5966delinsGT (FAM47E-STBD1) ENSP00000423044.2:n.387+5965_387+5966deli...
ENST00000514365.5:c.*52+13890_*52+13891delinsGT (FAM47E-STBD1) ENSP00000424458.1:n.*52+13890_*52+13891de...
ENST00000515604.5:c.871-336_871-335delinsGT (FAM47E-STBD1) ENSP00000422067.1:n.871-336_871-335delins...
NM_001136570.2:c.871-336_871-335delinsGT (FAM47E) NP_001130042.1:n.871-336_871-335delinsGT
NM_001242936.1:c.577-336_577-335delinsGT (FAM47E) NP_001229865.1:n.577-336_577-335delinsGT
NM_001242939.1:c.871-336_871-335delinsGT (FAM47E-STBD1) NP_001229868.1:n.871-336_871-335delinsGT
XR_001741406.1:n.203-15482_203-15481delinsAC
XR_001741407.1:n.203-15482_203-15481delinsAC
NM_001136570.3:c.871-336_871-335delinsGT (FAM47E) MANE Select NP_001130042.1:n.871-336_871-335delinsGT
NM_001242939.2:c.871-336_871-335delinsGT (FAM47E-STBD1) NP_001229868.1:n.871-336_871-335delinsGT