Canonical Allele Identifier: CA632383105

Gene: RFXANK

Linked Data

• dbSNP Id: rs1470809315
• gnomAD v2: 19-19308315-GCCT-G
• gnomAD v3: 19-19197506-GCCT-G
• gnomAD v4: 19-19197506-GCCT-G
• MyVariant Identifiers: chr19:g.19308316_19308318del (hg19) ; chr19:g.19197507_19197509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197513_19197515del , CM000681.2:g.19197513_19197515del	GRCh38
NC_000019.9:g.19308322_19308324del , CM000681.1:g.19308322_19308324del	GRCh37
NC_000019.8:g.19169322_19169324del	NCBI36
NG_007432.1:g.10315_10317del , LRG_102:g.10315_10317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303088.9:c.338-8_338-6del MANE Select	ENSP00000305071.2:n.338-8_338-6del
ENST00000303088.8:c.338-8_338-6del	ENSP00000305071.2:n.338-8_338-6del
ENST00000392324.8:c.269-8_269-6del	ENSP00000376138.3:n.269-8_269-6del
ENST00000407360.7:c.338-8_338-6del	ENSP00000384572.3:n.338-8_338-6del
ENST00000456252.7:c.272-8_272-6del	ENSP00000409138.2:n.272-8_272-6del
ENST00000535017.1:c.167-8_167-6del	ENSP00000444280.1:n.167-8_167-6del
ENST00000540981.5:c.272-8_272-6del	ENSP00000440325.2:n.272-8_272-6del
ENST00000541873.6:n.531-8_531-6del
ENST00000543118.1:n.259_261del
ENST00000545522.2:n.738_740del
ENST00000593273.5:c.335-8_335-6del	ENSP00000466913.1:n.335-8_335-6del
NM_001278727.1:c.272-8_272-6del	NP_001265656.1:n.272-8_272-6del
NM_001278728.1:c.269-8_269-6del	NP_001265657.1:n.269-8_269-6del
NM_003721.3:c.338-8_338-6del	NP_003712.1:n.338-8_338-6del
NM_134440.2:c.269-8_269-6del	NP_604389.1:n.269-8_269-6del
XM_005260134.3:c.338-8_338-6del	XP_005260191.1:n.338-8_338-6del
XM_005260135.2:c.338-8_338-6del	XP_005260192.1:n.338-8_338-6del
XM_005260136.3:c.335-8_335-6del	XP_005260193.1:n.335-8_335-6del
XM_005260137.3:c.335-8_335-6del	XP_005260194.1:n.335-8_335-6del
XM_006722930.2:c.335-8_335-6del	XP_006722993.1:n.335-8_335-6del
XM_005260134.5:c.338-8_338-6del	XP_005260191.1:n.338-8_338-6del
XM_005260135.3:c.338-8_338-6del	XP_005260192.1:n.338-8_338-6del
XM_005260136.5:c.335-8_335-6del	XP_005260193.1:n.335-8_335-6del
XM_005260137.4:c.335-8_335-6del	XP_005260194.1:n.335-8_335-6del
XM_006722930.4:c.335-8_335-6del	XP_006722993.1:n.335-8_335-6del
XM_017027415.1:c.338-8_338-6del	XP_016882904.1:n.338-8_338-6del
XM_017027416.1:c.272-8_272-6del	XP_016882905.1:n.272-8_272-6del
NM_003721.4:c.338-8_338-6del MANE Select	NP_003712.1:n.338-8_338-6del
NM_001370233.1:c.338-8_338-6del	NP_001357162.1:n.338-8_338-6del
NM_001370234.1:c.272-8_272-6del	NP_001357163.1:n.272-8_272-6del
NM_001370235.1:c.335-8_335-6del	NP_001357164.1:n.335-8_335-6del
NM_001370236.1:c.335-8_335-6del	NP_001357165.1:n.335-8_335-6del
NM_001370237.1:c.335-8_335-6del	NP_001357166.1:n.335-8_335-6del
NM_001370238.1:c.338-8_338-6del	NP_001357167.1:n.338-8_338-6del
NM_001278727.2:c.272-8_272-6del	NP_001265656.1:n.272-8_272-6del
NM_001278728.2:c.269-8_269-6del	NP_001265657.1:n.269-8_269-6del
NM_134440.3:c.269-8_269-6del	NP_604389.1:n.269-8_269-6del