Canonical Allele Identifier: CA2578822606

Gene: RNF216

Linked Data

• gnomAD v4: 7-5641365-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641371del , CM000669.2:g.5641371del	GRCh38
NC_000007.13:g.5681002del , CM000669.1:g.5681002del	GRCh37
NC_000007.12:g.5647528del	NCBI36
NG_029374.1:g.145365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2170del MANE Select	ENSP00000374552.3:p.Met724Ter
ENST00000389900.8:c.*1287del	ENSP00000374550.4:n.*1287del
ENST00000389902.7:c.2170del	ENSP00000374552.3:p.Met724Ter
ENST00000425013.6:c.1999del	ENSP00000404602.2:p.Met667Ter
ENST00000469375.1:n.387del
ENST00000484458.2:n.474del
NM_207111.3:c.2170del	NP_996994.1:p.Met724Ter
NM_207116.2:c.1999del	NP_996999.1:p.Met667Ter
XM_005249785.2:c.2170del	XP_005249842.1:p.Met724Ter
XM_006715748.1:c.865del	XP_006715811.1:p.Met289Ter
XM_011515434.1:c.2170del	XP_011513736.1:p.Met724Ter
XM_011515436.1:c.865del	XP_011513738.1:p.Met289Ter
XM_011515436.2:c.865del	XP_011513738.1:p.Met289Ter
XM_017012363.2:c.1999del	XP_016867852.1:p.Met667Ter
XM_024446805.1:c.2170del	XP_024302573.1:p.Met724Ter
XM_024446806.1:c.865del	XP_024302574.1:p.Met289Ter
XM_024446807.1:c.865del	XP_024302575.1:p.Met289Ter
NM_001377156.1:c.1999del	NP_001364085.1:p.Met667Ter
NM_207111.4:c.2170del MANE Select	NP_996994.1:p.Met724Ter
NM_207116.3:c.1999del	NP_996999.1:p.Met667Ter