Canonical Allele Identifier: CA2541903707

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520805_77520806insAAGGACGGTCGAAAGCAGA , CM000685.2:g.77520805_77520806insAAGGACGGTCGAAAGCAGA	GRCh38
NC_000023.10:g.76776283_76776284insAAGGACGGTCGAAAGCAGA , CM000685.1:g.76776283_76776284insAAGGACGGTCGAAAGCAGA	GRCh37
NC_000023.9:g.76662939_76662940insAAGGACGGTCGAAAGCAGA	NCBI36
NG_008838.2:g.270417_270418insCTGCTTTCGACCGTCCTTT
NG_008838.3:g.270465_270466insCTGCTTTCGACCGTCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7183_7184insCTGCTTTCGACCGTCCTTT MANE Select	ENSP00000362441.4:p.Leu2395SerfsTer?
ENST00000675732.1:c.2281_2282insCTGCTTTCGACCGTCCTTT	ENSP00000502598.1:p.Leu761SerfsTer?
ENST00000373344.9:c.7183_7184insCTGCTTTCGACCGTCCTTT	ENSP00000362441.4:p.Leu2395SerfsTer?
ENST00000395603.7:c.7069_7070insCTGCTTTCGACCGTCCTTT	ENSP00000378967.3:p.Leu2357SerfsTer?
ENST00000480283.5:c.*6811_*6812insCTGCTTTCGACCGTCCTTT	ENSP00000480196.1:n.*6811_*6812insCTGCTTTCGACCGTCCTTT
ENST00000623706.3:n.5503_5504insCTGCTTTCGACCGTCCTTT
ENST00000624766.1:n.414_415insCTGCTTTCGACCGTCCTTT
NM_000489.4:c.7183_7184insCTGCTTTCGACCGTCCTTT	NP_000480.3:p.Leu2395SerfsTer?
NM_138270.3:c.7069_7070insCTGCTTTCGACCGTCCTTT	NP_612114.2:p.Leu2357SerfsTer?
XM_005262153.3:c.7180_7181insCTGCTTTCGACCGTCCTTT	XP_005262210.2:p.Leu2394SerfsTer?
XM_005262154.3:c.7096_7097insCTGCTTTCGACCGTCCTTT	XP_005262211.2:p.Leu2366SerfsTer?
XM_005262155.3:c.7066_7067insCTGCTTTCGACCGTCCTTT	XP_005262212.2:p.Leu2356SerfsTer?
XM_005262156.3:c.7018_7019insCTGCTTTCGACCGTCCTTT	XP_005262213.2:p.Leu2340SerfsTer?
XM_005262157.3:c.6979_6980insCTGCTTTCGACCGTCCTTT	XP_005262214.2:p.Leu2327SerfsTer?
XM_006724666.2:c.7066_7067insCTGCTTTCGACCGTCCTTT	XP_006724729.1:p.Leu2356SerfsTer?
XM_006724667.2:c.6904_6905insCTGCTTTCGACCGTCCTTT	XP_006724730.1:p.Leu2302SerfsTer?
XR_938400.1:n.8775_8776insCTGCTTTCGACCGTCCTTT
NM_000489.5:c.7183_7184insCTGCTTTCGACCGTCCTTT	NP_000480.3:p.Leu2395SerfsTer?
XM_005262153.5:c.7180_7181insCTGCTTTCGACCGTCCTTT	XP_005262210.2:p.Leu2394SerfsTer?
XM_005262154.5:c.7096_7097insCTGCTTTCGACCGTCCTTT	XP_005262211.2:p.Leu2366SerfsTer?
XM_005262155.4:c.7066_7067insCTGCTTTCGACCGTCCTTT	XP_005262212.2:p.Leu2356SerfsTer?
XM_005262156.4:c.7018_7019insCTGCTTTCGACCGTCCTTT	XP_005262213.2:p.Leu2340SerfsTer?
XM_005262157.5:c.6979_6980insCTGCTTTCGACCGTCCTTT	XP_005262214.2:p.Leu2327SerfsTer?
XM_006724666.4:c.7066_7067insCTGCTTTCGACCGTCCTTT	XP_006724729.1:p.Leu2356SerfsTer?
XM_006724667.3:c.6904_6905insCTGCTTTCGACCGTCCTTT	XP_006724730.1:p.Leu2302SerfsTer?
XM_017029601.2:c.7093_7094insCTGCTTTCGACCGTCCTTT	XP_016885090.1:p.Leu2365SerfsTer?
XM_017029602.1:c.7063_7064insCTGCTTTCGACCGTCCTTT	XP_016885091.1:p.Leu2355SerfsTer?
XM_017029603.1:c.7015_7016insCTGCTTTCGACCGTCCTTT	XP_016885092.1:p.Leu2339SerfsTer?
XM_017029604.2:c.6982_6983insCTGCTTTCGACCGTCCTTT	XP_016885093.1:p.Leu2328SerfsTer?
XM_017029605.1:c.6979_6980insCTGCTTTCGACCGTCCTTT	XP_016885094.1:p.Leu2327SerfsTer?
XM_017029606.2:c.6952_6953insCTGCTTTCGACCGTCCTTT	XP_016885095.1:p.Leu2318SerfsTer?
XM_017029607.2:c.6949_6950insCTGCTTTCGACCGTCCTTT	XP_016885096.1:p.Leu2317SerfsTer?
XM_017029608.2:c.6901_6902insCTGCTTTCGACCGTCCTTT	XP_016885097.1:p.Leu2301SerfsTer?
XM_017029609.1:c.6865_6866insCTGCTTTCGACCGTCCTTT	XP_016885098.1:p.Leu2289SerfsTer?
XM_017029610.1:c.6862_6863insCTGCTTTCGACCGTCCTTT	XP_016885099.1:p.Leu2288SerfsTer?
XM_017029611.1:c.6817_6818insCTGCTTTCGACCGTCCTTT	XP_016885100.1:p.Leu2273SerfsTer?
XR_001755700.2:n.7482_7483insCTGCTTTCGACCGTCCTTT
NM_138270.4:c.7069_7070insCTGCTTTCGACCGTCCTTT	NP_612114.2:p.Leu2357SerfsTer?
NM_000489.6:c.7183_7184insCTGCTTTCGACCGTCCTTT MANE Select	NP_000480.3:p.Leu2395SerfsTer?
NM_138270.5:c.7069_7070insCTGCTTTCGACCGTCCTTT	NP_612114.2:p.Leu2357SerfsTer?