Canonical Allele Identifier: CA2583682413

Gene: RFXANK

Linked Data

• gnomAD v4: 19-19197553-G-GGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197555_19197589dup , CM000681.2:g.19197555_19197589dup	GRCh38
NC_000019.9:g.19308364_19308398dup , CM000681.1:g.19308364_19308398dup	GRCh37
NC_000019.8:g.19169364_19169398dup	NCBI36
NG_007432.1:g.10357_10391dup , LRG_102:g.10357_10391dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303088.9:c.372_406dup MANE Select	ENSP00000305071.2:p.Glu136AlafsTer?
ENST00000303088.8:c.372_406dup	ENSP00000305071.2:p.Glu136AlafsTer?
ENST00000392324.8:c.303_337dup	ENSP00000376138.3:p.Glu113AlafsTer?
ENST00000407360.7:c.372_406dup	ENSP00000384572.3:p.Glu136AlafsTer?
ENST00000456252.7:c.306_340dup	ENSP00000409138.2:p.Glu114AlafsTer?
ENST00000535017.1:c.201_235dup	ENSP00000444280.1:p.Glu79AlafsTer?
ENST00000540981.5:c.306_340dup	ENSP00000440325.2:p.Glu114AlafsTer?
ENST00000541873.6:n.565_599dup
ENST00000543118.1:n.301_335dup
ENST00000545522.2:n.780_814dup
ENST00000593273.5:c.369_403dup	ENSP00000466913.1:p.Glu135AlafsTer?
NM_001278727.1:c.306_340dup	NP_001265656.1:p.Glu114AlafsTer?
NM_001278728.1:c.303_337dup	NP_001265657.1:p.Glu113AlafsTer?
NM_003721.3:c.372_406dup	NP_003712.1:p.Glu136AlafsTer?
NM_134440.2:c.303_337dup	NP_604389.1:p.Glu113AlafsTer?
XM_005260134.3:c.372_406dup	XP_005260191.1:p.Glu136AlafsTer?
XM_005260135.2:c.372_406dup	XP_005260192.1:p.Glu136AlafsTer?
XM_005260136.3:c.369_403dup	XP_005260193.1:p.Glu135AlafsTer?
XM_005260137.3:c.369_403dup	XP_005260194.1:p.Glu135AlafsTer?
XM_006722930.2:c.369_403dup	XP_006722993.1:p.Glu135AlafsTer?
XM_005260134.5:c.372_406dup	XP_005260191.1:p.Glu136AlafsTer?
XM_005260135.3:c.372_406dup	XP_005260192.1:p.Glu136AlafsTer?
XM_005260136.5:c.369_403dup	XP_005260193.1:p.Glu135AlafsTer?
XM_005260137.4:c.369_403dup	XP_005260194.1:p.Glu135AlafsTer?
XM_006722930.4:c.369_403dup	XP_006722993.1:p.Glu135AlafsTer?
XM_017027415.1:c.372_406dup	XP_016882904.1:p.Glu136AlafsTer?
XM_017027416.1:c.306_340dup	XP_016882905.1:p.Glu114AlafsTer?
NM_003721.4:c.372_406dup MANE Select	NP_003712.1:p.Glu136AlafsTer?
NM_001370233.1:c.372_406dup	NP_001357162.1:p.Glu136AlafsTer?
NM_001370234.1:c.306_340dup	NP_001357163.1:p.Glu114AlafsTer?
NM_001370235.1:c.369_403dup	NP_001357164.1:p.Glu135AlafsTer?
NM_001370236.1:c.369_403dup	NP_001357165.1:p.Glu135AlafsTer?
NM_001370237.1:c.369_403dup	NP_001357166.1:p.Glu135AlafsTer?
NM_001370238.1:c.372_406dup	NP_001357167.1:p.Glu136AlafsTer?
NM_001278727.2:c.306_340dup	NP_001265656.1:p.Glu114AlafsTer?
NM_001278728.2:c.303_337dup	NP_001265657.1:p.Glu113AlafsTer?
NM_134440.3:c.303_337dup	NP_604389.1:p.Glu113AlafsTer?