Canonical Allele Identifier: CA798549816

Gene: FAM47E FAM47E-STBD1

Linked Data

• dbSNP Id: rs1159055746
• gnomAD v3: 4-76277629-CTGAG-C
• gnomAD v4: 4-76277629-CTGAG-C
• MyVariant Identifiers: chr4:g.77198783_77198786del (hg19) ; chr4:g.76277630_76277633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76277631_76277634del , CM000666.2:g.76277631_76277634del	GRCh38
NC_000004.11:g.77198784_77198787del , CM000666.1:g.77198784_77198787del	GRCh37
NC_000004.10:g.77417808_77417811del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424749.7:c.871-438_871-435del (FAM47E) MANE Select	ENSP00000409423.2:n.871-438_871-435del
ENST00000651133.1:c.*253+5863_*253+5866del (FAM47E-STBD1)	ENSP00000498232.1:n.*253+5863_*253+5866del
ENST00000424749.6:c.871-438_871-435del (FAM47E)	ENSP00000409423.2:n.871-438_871-435del
ENST00000502320.2:n.539-438_539-435del (FAM47E)
ENST00000509377.1:c.*407+5863_*407+5866del (FAM47E-STBD1)	ENSP00000425528.2:n.*407+5863_*407+5866del
ENST00000510197.5:c.577-438_577-435del (FAM47E)	ENSP00000422262.1:n.577-438_577-435del
ENST00000510328.5:n.416-438_416-435del (FAM47E)
ENST00000514140.1:c.387+5863_387+5866del (FAM47E-STBD1)	ENSP00000423044.2:n.387+5863_387+5866del
ENST00000514365.5:c.*52+13788_*52+13791del (FAM47E-STBD1)	ENSP00000424458.1:n.*52+13788_*52+13791del
ENST00000515604.5:c.871-438_871-435del (FAM47E-STBD1)	ENSP00000422067.1:n.871-438_871-435del
NM_001136570.2:c.871-438_871-435del (FAM47E)	NP_001130042.1:n.871-438_871-435del
NM_001242936.1:c.577-438_577-435del (FAM47E)	NP_001229865.1:n.577-438_577-435del
NM_001242939.1:c.871-438_871-435del (FAM47E-STBD1)	NP_001229868.1:n.871-438_871-435del
XR_001741406.1:n.203-15381_203-15378del
XR_001741407.1:n.203-15381_203-15378del
NM_001136570.3:c.871-438_871-435del (FAM47E) MANE Select	NP_001130042.1:n.871-438_871-435del
NM_001242939.2:c.871-438_871-435del (FAM47E-STBD1)	NP_001229868.1:n.871-438_871-435del