Canonical Allele Identifier: CA1685038217

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641430_5641431delinsAT , CM000669.2:g.5641430_5641431delinsAT	GRCh38
NC_000007.13:g.5681061_5681062delinsAT , CM000669.1:g.5681061_5681062delinsAT	GRCh37
NC_000007.12:g.5647587_5647588delinsAT	NCBI36
NG_029374.1:g.145300_145301delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2160-55_2160-54delinsAT MANE Select	ENSP00000374552.3:n.2160-55_2160-54delinsAT
ENST00000389900.8:c.*1277-55_*1277-54delinsAT	ENSP00000374550.4:n.*1277-55_*1277-54delinsAT
ENST00000389902.7:c.2160-55_2160-54delinsAT	ENSP00000374552.3:n.2160-55_2160-54delinsAT
ENST00000425013.6:c.1989-55_1989-54delinsAT	ENSP00000404602.2:n.1989-55_1989-54delinsAT
ENST00000469375.1:n.377-55_377-54delinsAT
ENST00000484458.2:n.464-55_464-54delinsAT
NM_207111.3:c.2160-55_2160-54delinsAT	NP_996994.1:n.2160-55_2160-54delinsAT
NM_207116.2:c.1989-55_1989-54delinsAT	NP_996999.1:n.1989-55_1989-54delinsAT
XM_005249785.2:c.2160-55_2160-54delinsAT	XP_005249842.1:n.2160-55_2160-54delinsAT
XM_006715748.1:c.855-55_855-54delinsAT	XP_006715811.1:n.855-55_855-54delinsAT
XM_011515434.1:c.2160-55_2160-54delinsAT	XP_011513736.1:n.2160-55_2160-54delinsAT
XM_011515436.1:c.855-55_855-54delinsAT	XP_011513738.1:n.855-55_855-54delinsAT
XM_011515436.2:c.855-55_855-54delinsAT	XP_011513738.1:n.855-55_855-54delinsAT
XM_017012363.2:c.1989-55_1989-54delinsAT	XP_016867852.1:n.1989-55_1989-54delinsAT
XM_024446805.1:c.2160-55_2160-54delinsAT	XP_024302573.1:n.2160-55_2160-54delinsAT
XM_024446806.1:c.855-55_855-54delinsAT	XP_024302574.1:n.855-55_855-54delinsAT
XM_024446807.1:c.855-55_855-54delinsAT	XP_024302575.1:n.855-55_855-54delinsAT
NM_001377156.1:c.1989-55_1989-54delinsAT	NP_001364085.1:n.1989-55_1989-54delinsAT
NM_207111.4:c.2160-55_2160-54delinsAT MANE Select	NP_996994.1:n.2160-55_2160-54delinsAT
NM_207116.3:c.1989-55_1989-54delinsAT	NP_996999.1:n.1989-55_1989-54delinsAT