Canonical Allele Identifier: CA2505482693

Gene: RTTN

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127706_70127707del , CM000680.2:g.70127706_70127707del	GRCh38
NC_000018.9:g.67794942_67794943del , CM000680.1:g.67794942_67794943del	GRCh37
NC_000018.8:g.65945922_65945923del	NCBI36
NG_033104.1:g.83020_83021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3178_3179del	ENSP00000255674.7:p.Ile1060ProfsTer10
ENST00000638251.1:c.*1170_*1171del	ENSP00000491968.1:n.*1170_*1171del
ENST00000638298.1:c.167_168del
ENST00000639128.1:n.724_725del
ENST00000640376.1:c.2624+651_2624+652del	ENSP00000491654.1:n.2624+651_2624+652del
ENST00000640408.1:n.3610_3611del
ENST00000640769.2:c.3178_3179del MANE Select	ENSP00000491507.1:p.Ile1060ProfsTer10
ENST00000640931.1:c.399_400del
ENST00000677824.1:c.783-6007_783-6006del	ENSP00000504646.1:n.783-6007_783-6006del
ENST00000679113.1:c.400_401del	ENSP00000504487.1:p.Ile134ProfsTer10
ENST00000255674.10:c.3178_3179del	ENSP00000255674.6:p.Ile1060ProfsTer10
ENST00000581161.5:c.*1492_*1493del	ENSP00000462926.1:n.*1492_*1493del
ENST00000583043.5:c.2459_2460del	ENSP00000462733.1:n.2459_2460del
NM_173630.3:c.3178_3179del	NP_775901.3:p.Ile1060ProfsTer10
XM_005266679.1:c.442_443del	XP_005266736.1:p.Ile148ProfsTer10
XM_006722434.2:c.3181_3182del	XP_006722497.1:p.Ile1061ProfsTer10
XM_006722435.2:c.3181_3182del	XP_006722498.1:p.Ile1061ProfsTer10
XM_011525902.1:c.3146+651_3146+652del	XP_011524204.1:n.3146+651_3146+652del
XM_011525903.1:c.2958-6007_2958-6006del	XP_011524205.1:n.2958-6007_2958-6006del
XM_011525904.1:c.3181_3182del	XP_011524206.1:p.Ile1061ProfsTer10
XM_011525905.1:c.3181_3182del	XP_011524207.1:p.Ile1061ProfsTer10
XM_011525906.1:c.1681_1682del	XP_011524208.1:p.Ile561ProfsTer10
XM_011525907.1:c.3181_3182del	XP_011524209.1:p.Ile1061ProfsTer10
XM_011525908.1:c.3181_3182del	XP_011524210.1:p.Ile1061ProfsTer10
XR_430072.2:n.3219_3220del
XR_935213.1:n.3219_3220del
NM_001318520.1:c.442_443del	NP_001305449.1:p.Ile148ProfsTer10
XM_006722434.3:c.3181_3182del	XP_006722497.1:p.Ile1061ProfsTer10
XM_006722435.3:c.3181_3182del	XP_006722498.1:p.Ile1061ProfsTer10
XM_011525902.2:c.3146+651_3146+652del	XP_011524204.1:n.3146+651_3146+652del
XM_011525903.2:c.2958-6007_2958-6006del	XP_011524205.1:n.2958-6007_2958-6006del
XM_011525904.3:c.3181_3182del	XP_011524206.1:p.Ile1061ProfsTer10
XM_011525905.2:c.3181_3182del	XP_011524207.1:p.Ile1061ProfsTer10
XM_011525906.2:c.1681_1682del	XP_011524208.1:p.Ile561ProfsTer10
XM_011525907.2:c.3181_3182del	XP_011524209.1:p.Ile1061ProfsTer10
XM_011525908.3:c.3181_3182del	XP_011524210.1:p.Ile1061ProfsTer10
XM_017025693.1:c.3143+651_3143+652del	XP_016881182.1:n.3143+651_3143+652del
XM_017025694.1:c.2539_2540del	XP_016881183.1:p.Ile847ProfsTer10
XM_017025695.1:c.2116_2117del	XP_016881184.1:p.Ile706ProfsTer10
XM_017025696.1:c.1072_1073del	XP_016881185.1:p.Ile358ProfsTer10
XM_024451139.1:c.2401_2402del	XP_024306907.1:p.Ile801ProfsTer10
XM_024451140.1:c.2401_2402del	XP_024306908.1:p.Ile801ProfsTer10
XR_430072.3:n.3249_3250del
XR_935213.2:n.3249_3250del
NM_001318520.2:c.442_443del	NP_001305449.1:p.Ile148ProfsTer10
NM_173630.4:c.3178_3179del MANE Select	NP_775901.3:p.Ile1060ProfsTer10