Canonical Allele Identifier: CA1685038313
Gene: RNF216 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5641538_5641545delinsCAAAGTTT , CM000669.2:g.5641538_5641545delinsCAAAGTTT GRCh38
NC_000007.13:g.5681169_5681176delinsCAAAGTTT , CM000669.1:g.5681169_5681176delinsCAAAGTTT GRCh37
NC_000007.12:g.5647695_5647702delinsCAAAGTTT NCBI36
NG_029374.1:g.145186_145193delinsAAACTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389902.8:c.2160-169_2160-162delinsAAACTTTG MANE Select ENSP00000374552.3:n.2160-169_2160-162delinsAAACTTTG
ENST00000389900.8:c.*1277-169_*1277-162delinsAAACTTTG ENSP00000374550.4:n.*1277-169_*1277-162delinsAAACTTTG
ENST00000389902.7:c.2160-169_2160-162delinsAAACTTTG ENSP00000374552.3:n.2160-169_2160-162delinsAAACTTTG
ENST00000425013.6:c.1989-169_1989-162delinsAAACTTTG ENSP00000404602.2:n.1989-169_1989-162delinsAAACTTTG
ENST00000469375.1:n.377-169_377-162delinsAAACTTTG
ENST00000484458.2:n.464-169_464-162delinsAAACTTTG
NM_207111.3:c.2160-169_2160-162delinsAAACTTTG NP_996994.1:n.2160-169_2160-162delinsAAACTTTG
NM_207116.2:c.1989-169_1989-162delinsAAACTTTG NP_996999.1:n.1989-169_1989-162delinsAAACTTTG
XM_005249785.2:c.2160-169_2160-162delinsAAACTTTG XP_005249842.1:n.2160-169_2160-162delinsAAACTTTG
XM_006715748.1:c.855-169_855-162delinsAAACTTTG XP_006715811.1:n.855-169_855-162delinsAAACTTTG
XM_011515434.1:c.2160-169_2160-162delinsAAACTTTG XP_011513736.1:n.2160-169_2160-162delinsAAACTTTG
XM_011515436.1:c.855-169_855-162delinsAAACTTTG XP_011513738.1:n.855-169_855-162delinsAAACTTTG
XM_011515436.2:c.855-169_855-162delinsAAACTTTG XP_011513738.1:n.855-169_855-162delinsAAACTTTG
XM_017012363.2:c.1989-169_1989-162delinsAAACTTTG XP_016867852.1:n.1989-169_1989-162delinsAAACTTTG
XM_024446805.1:c.2160-169_2160-162delinsAAACTTTG XP_024302573.1:n.2160-169_2160-162delinsAAACTTTG
XM_024446806.1:c.855-169_855-162delinsAAACTTTG XP_024302574.1:n.855-169_855-162delinsAAACTTTG
XM_024446807.1:c.855-169_855-162delinsAAACTTTG XP_024302575.1:n.855-169_855-162delinsAAACTTTG
NM_001377156.1:c.1989-169_1989-162delinsAAACTTTG NP_001364085.1:n.1989-169_1989-162delinsAAACTTTG
NM_207111.4:c.2160-169_2160-162delinsAAACTTTG MANE Select NP_996994.1:n.2160-169_2160-162delinsAAACTTTG
NM_207116.3:c.1989-169_1989-162delinsAAACTTTG NP_996999.1:n.1989-169_1989-162delinsAAACTTTG