Canonical Allele Identifier: CA2642180115

Gene: RTTN

Linked Data

• gnomAD v4: 18-70127607-G-GCACAGAAAAACAAACATCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127607_70127608insCACAGAAAAACAAACATCACA , CM000680.2:g.70127607_70127608insCACAGAAAAACAAACATCACA	GRCh38
NC_000018.9:g.67794843_67794844insCACAGAAAAACAAACATCACA , CM000680.1:g.67794843_67794844insCACAGAAAAACAAACATCACA	GRCh37
NC_000018.8:g.65945823_65945824insCACAGAAAAACAAACATCACA	NCBI36
NG_033104.1:g.83119_83120insTGTGATGTTTGTTTTTCTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000255674.11:c.3277_3278insTGTGATGTTTGTTTTTCTGTG	ENSP00000255674.7:p.Thr1093MetfsTer2
ENST00000638251.1:c.*1269_*1270insTGTGATGTTTGTTTTTCTGTG	ENSP00000491968.1:n.*1269_*1270insTGTGATGTTTGTTTTTCTGTG
ENST00000638298.1:c.266_267insTGTGATGTTTGTTTTTCTGTG
ENST00000639128.1:n.823_824insTGTGATGTTTGTTTTTCTGTG
ENST00000640376.1:c.2624+750_2624+751insTGTGATGTTTGTTTTTCTGTG	ENSP00000491654.1:n.2624+750_2624+751insTGTGATGTTTGTTTTTCTGTG...
ENST00000640408.1:n.3709_3710insTGTGATGTTTGTTTTTCTGTG
ENST00000640769.2:c.3277_3278insTGTGATGTTTGTTTTTCTGTG MANE Select	ENSP00000491507.1:p.Thr1093MetfsTer2
ENST00000640931.1:c.498_499insTGTGATGTTTGTTTTTCTGTG
ENST00000677824.1:c.783-5908_783-5907insTGTGATGTTTGTTTTTCTGTG	ENSP00000504646.1:n.783-5908_783-5907insTGTGATGTTTGTTTTTCTGTG...
ENST00000679113.1:c.499_500insTGTGATGTTTGTTTTTCTGTG	ENSP00000504487.1:p.Thr167MetfsTer2
ENST00000255674.10:c.3277_3278insTGTGATGTTTGTTTTTCTGTG	ENSP00000255674.6:p.Thr1093MetfsTer2
ENST00000581161.5:c.*1591_*1592insTGTGATGTTTGTTTTTCTGTG	ENSP00000462926.1:n.*1591_*1592insTGTGATGTTTGTTTTTCTGTG
ENST00000583043.5:c.2558_2559insTGTGATGTTTGTTTTTCTGTG	ENSP00000462733.1:n.2558_2559insTGTGATGTTTGTTTTTCTGTG
NM_173630.3:c.3277_3278insTGTGATGTTTGTTTTTCTGTG	NP_775901.3:p.Thr1093MetfsTer2
XM_005266679.1:c.541_542insTGTGATGTTTGTTTTTCTGTG	XP_005266736.1:p.Thr181MetfsTer2
XM_006722434.2:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_006722497.1:p.Thr1094MetfsTer2
XM_006722435.2:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_006722498.1:p.Thr1094MetfsTer2
XM_011525902.1:c.3146+750_3146+751insTGTGATGTTTGTTTTTCTGTG	XP_011524204.1:n.3146+750_3146+751insTGTGATGTTTGTTTTTCTGTG
XM_011525903.1:c.2958-5908_2958-5907insTGTGATGTTTGTTTTTCTGTG	XP_011524205.1:n.2958-5908_2958-5907insTGTGATGTTTGTTTTTCTGTG
XM_011525904.1:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524206.1:p.Thr1094MetfsTer2
XM_011525905.1:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524207.1:p.Thr1094MetfsTer2
XM_011525906.1:c.1780_1781insTGTGATGTTTGTTTTTCTGTG	XP_011524208.1:p.Thr594MetfsTer2
XM_011525907.1:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524209.1:p.Thr1094MetfsTer2
XM_011525908.1:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524210.1:p.Thr1094MetfsTer2
XR_430072.2:n.3318_3319insTGTGATGTTTGTTTTTCTGTG
XR_935213.1:n.3318_3319insTGTGATGTTTGTTTTTCTGTG
NM_001318520.1:c.541_542insTGTGATGTTTGTTTTTCTGTG	NP_001305449.1:p.Thr181MetfsTer2
XM_006722434.3:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_006722497.1:p.Thr1094MetfsTer2
XM_006722435.3:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_006722498.1:p.Thr1094MetfsTer2
XM_011525902.2:c.3146+750_3146+751insTGTGATGTTTGTTTTTCTGTG	XP_011524204.1:n.3146+750_3146+751insTGTGATGTTTGTTTTTCTGTG
XM_011525903.2:c.2958-5908_2958-5907insTGTGATGTTTGTTTTTCTGTG	XP_011524205.1:n.2958-5908_2958-5907insTGTGATGTTTGTTTTTCTGTG
XM_011525904.3:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524206.1:p.Thr1094MetfsTer2
XM_011525905.2:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524207.1:p.Thr1094MetfsTer2
XM_011525906.2:c.1780_1781insTGTGATGTTTGTTTTTCTGTG	XP_011524208.1:p.Thr594MetfsTer2
XM_011525907.2:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524209.1:p.Thr1094MetfsTer2
XM_011525908.3:c.3280_3281insTGTGATGTTTGTTTTTCTGTG	XP_011524210.1:p.Thr1094MetfsTer2
XM_017025693.1:c.3143+750_3143+751insTGTGATGTTTGTTTTTCTGTG	XP_016881182.1:n.3143+750_3143+751insTGTGATGTTTGTTTTTCTGTG
XM_017025694.1:c.2638_2639insTGTGATGTTTGTTTTTCTGTG	XP_016881183.1:p.Thr880MetfsTer2
XM_017025695.1:c.2215_2216insTGTGATGTTTGTTTTTCTGTG	XP_016881184.1:p.Thr739MetfsTer2
XM_017025696.1:c.1171_1172insTGTGATGTTTGTTTTTCTGTG	XP_016881185.1:p.Thr391MetfsTer2
XM_024451139.1:c.2500_2501insTGTGATGTTTGTTTTTCTGTG	XP_024306907.1:p.Thr834MetfsTer2
XM_024451140.1:c.2500_2501insTGTGATGTTTGTTTTTCTGTG	XP_024306908.1:p.Thr834MetfsTer2
XR_430072.3:n.3348_3349insTGTGATGTTTGTTTTTCTGTG
XR_935213.2:n.3348_3349insTGTGATGTTTGTTTTTCTGTG
NM_001318520.2:c.541_542insTGTGATGTTTGTTTTTCTGTG	NP_001305449.1:p.Thr181MetfsTer2
NM_173630.4:c.3277_3278insTGTGATGTTTGTTTTTCTGTG MANE Select	NP_775901.3:p.Thr1093MetfsTer2