Canonical Allele Identifier: CA920075248

Gene: RFXANK

Linked Data

• dbSNP Id: rs893886137
• gnomAD v3: 19-19197367-CTG-C
• gnomAD v4: 19-19197367-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197376_19197377del , CM000681.2:g.19197376_19197377del	GRCh38
NC_000019.9:g.19308185_19308186del , CM000681.1:g.19308185_19308186del	GRCh37
NC_000019.8:g.19169185_19169186del	NCBI36
NG_007432.1:g.10178_10179del , LRG_102:g.10178_10179del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303088.9:c.337+125_337+126del MANE Select	ENSP00000305071.2:n.337+125_337+126del
ENST00000303088.8:c.337+125_337+126del	ENSP00000305071.2:n.337+125_337+126del
ENST00000392324.8:c.269-145_269-144del	ENSP00000376138.3:n.269-145_269-144del
ENST00000407360.7:c.337+125_337+126del	ENSP00000384572.3:n.337+125_337+126del
ENST00000456252.7:c.272-145_272-144del	ENSP00000409138.2:n.272-145_272-144del
ENST00000535017.1:c.167-145_167-144del	ENSP00000444280.1:n.167-145_167-144del
ENST00000540981.5:c.272-145_272-144del	ENSP00000440325.2:n.272-145_272-144del
ENST00000541873.6:n.530+125_530+126del
ENST00000543118.1:n.122_123del
ENST00000543157.7:n.861_862del
ENST00000545522.2:n.601_602del
ENST00000593273.5:c.334+125_334+126del	ENSP00000466913.1:n.334+125_334+126del
NM_001278727.1:c.272-145_272-144del	NP_001265656.1:n.272-145_272-144del
NM_001278728.1:c.269-145_269-144del	NP_001265657.1:n.269-145_269-144del
NM_003721.3:c.337+125_337+126del	NP_003712.1:n.337+125_337+126del
NM_134440.2:c.269-145_269-144del	NP_604389.1:n.269-145_269-144del
XM_005260134.3:c.337+125_337+126del	XP_005260191.1:n.337+125_337+126del
XM_005260135.2:c.337+125_337+126del	XP_005260192.1:n.337+125_337+126del
XM_005260136.3:c.334+125_334+126del	XP_005260193.1:n.334+125_334+126del
XM_005260137.3:c.334+125_334+126del	XP_005260194.1:n.334+125_334+126del
XM_006722930.2:c.334+125_334+126del	XP_006722993.1:n.334+125_334+126del
XM_005260134.5:c.337+125_337+126del	XP_005260191.1:n.337+125_337+126del
XM_005260135.3:c.337+125_337+126del	XP_005260192.1:n.337+125_337+126del
XM_005260136.5:c.334+125_334+126del	XP_005260193.1:n.334+125_334+126del
XM_005260137.4:c.334+125_334+126del	XP_005260194.1:n.334+125_334+126del
XM_006722930.4:c.334+125_334+126del	XP_006722993.1:n.334+125_334+126del
XM_017027415.1:c.337+125_337+126del	XP_016882904.1:n.337+125_337+126del
XM_017027416.1:c.272-145_272-144del	XP_016882905.1:n.272-145_272-144del
NM_003721.4:c.337+125_337+126del MANE Select	NP_003712.1:n.337+125_337+126del
NM_001370233.1:c.337+125_337+126del	NP_001357162.1:n.337+125_337+126del
NM_001370234.1:c.272-145_272-144del	NP_001357163.1:n.272-145_272-144del
NM_001370235.1:c.334+125_334+126del	NP_001357164.1:n.334+125_334+126del
NM_001370236.1:c.334+125_334+126del	NP_001357165.1:n.334+125_334+126del
NM_001370237.1:c.334+125_334+126del	NP_001357166.1:n.334+125_334+126del
NM_001370238.1:c.337+125_337+126del	NP_001357167.1:n.337+125_337+126del
NM_001278727.2:c.272-145_272-144del	NP_001265656.1:n.272-145_272-144del
NM_001278728.2:c.269-145_269-144del	NP_001265657.1:n.269-145_269-144del
NM_134440.3:c.269-145_269-144del	NP_604389.1:n.269-145_269-144del