Canonical Allele Identifier: CA2681658380

Gene: RNF216

Linked Data

• gnomAD v4: 7-5641485-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641488_5641489del , CM000669.2:g.5641488_5641489del	GRCh38
NC_000007.13:g.5681119_5681120del , CM000669.1:g.5681119_5681120del	GRCh37
NC_000007.12:g.5647645_5647646del	NCBI36
NG_029374.1:g.145244_145245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2160-111_2160-110del MANE Select	ENSP00000374552.3:n.2160-111_2160-110del
ENST00000389900.8:c.*1277-111_*1277-110del	ENSP00000374550.4:n.*1277-111_*1277-110del
ENST00000389902.7:c.2160-111_2160-110del	ENSP00000374552.3:n.2160-111_2160-110del
ENST00000425013.6:c.1989-111_1989-110del	ENSP00000404602.2:n.1989-111_1989-110del
ENST00000469375.1:n.377-111_377-110del
ENST00000484458.2:n.464-111_464-110del
NM_207111.3:c.2160-111_2160-110del	NP_996994.1:n.2160-111_2160-110del
NM_207116.2:c.1989-111_1989-110del	NP_996999.1:n.1989-111_1989-110del
XM_005249785.2:c.2160-111_2160-110del	XP_005249842.1:n.2160-111_2160-110del
XM_006715748.1:c.855-111_855-110del	XP_006715811.1:n.855-111_855-110del
XM_011515434.1:c.2160-111_2160-110del	XP_011513736.1:n.2160-111_2160-110del
XM_011515436.1:c.855-111_855-110del	XP_011513738.1:n.855-111_855-110del
XM_011515436.2:c.855-111_855-110del	XP_011513738.1:n.855-111_855-110del
XM_017012363.2:c.1989-111_1989-110del	XP_016867852.1:n.1989-111_1989-110del
XM_024446805.1:c.2160-111_2160-110del	XP_024302573.1:n.2160-111_2160-110del
XM_024446806.1:c.855-111_855-110del	XP_024302574.1:n.855-111_855-110del
XM_024446807.1:c.855-111_855-110del	XP_024302575.1:n.855-111_855-110del
NM_001377156.1:c.1989-111_1989-110del	NP_001364085.1:n.1989-111_1989-110del
NM_207111.4:c.2160-111_2160-110del MANE Select	NP_996994.1:n.2160-111_2160-110del
NM_207116.3:c.1989-111_1989-110del	NP_996999.1:n.1989-111_1989-110del