Canonical Allele Identifier: CA630873131

Gene: RTTN

Linked Data

• dbSNP Id: rs1220318073
• gnomAD v2: 18-67794959-CTT-C
• gnomAD v3: 18-70127723-CTT-C
• gnomAD v4: 18-70127723-CTT-C
• MyVariant Identifiers: chr18:g.67794960_67794961del (hg19) ; chr18:g.70127724_70127725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127724_70127725del , CM000680.2:g.70127724_70127725del	GRCh38
NC_000018.9:g.67794960_67794961del , CM000680.1:g.67794960_67794961del	GRCh37
NC_000018.8:g.65945940_65945941del	NCBI36
NG_033104.1:g.83002_83003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3160_3161del	ENSP00000255674.7:p.Lys1054ValfsTer16
ENST00000638251.1:c.*1152_*1153del	ENSP00000491968.1:n.*1152_*1153del
ENST00000638298.1:c.149_150del
ENST00000639128.1:n.706_707del
ENST00000640376.1:c.2624+633_2624+634del	ENSP00000491654.1:n.2624+633_2624+634del
ENST00000640408.1:n.3592_3593del
ENST00000640769.2:c.3160_3161del MANE Select	ENSP00000491507.1:p.Lys1054ValfsTer16
ENST00000640931.1:c.381_382del
ENST00000677824.1:c.783-6025_783-6024del	ENSP00000504646.1:n.783-6025_783-6024del
ENST00000679113.1:c.382_383del	ENSP00000504487.1:p.Lys128ValfsTer16
ENST00000255674.10:c.3160_3161del	ENSP00000255674.6:p.Lys1054ValfsTer16
ENST00000581161.5:c.*1474_*1475del	ENSP00000462926.1:n.*1474_*1475del
ENST00000583043.5:c.2441_2442del	ENSP00000462733.1:n.2441_2442del
NM_173630.3:c.3160_3161del	NP_775901.3:p.Lys1054ValfsTer16
XM_005266679.1:c.424_425del	XP_005266736.1:p.Lys142ValfsTer16
XM_006722434.2:c.3163_3164del	XP_006722497.1:p.Lys1055ValfsTer16
XM_006722435.2:c.3163_3164del	XP_006722498.1:p.Lys1055ValfsTer16
XM_011525902.1:c.3146+633_3146+634del	XP_011524204.1:n.3146+633_3146+634del
XM_011525903.1:c.2958-6025_2958-6024del	XP_011524205.1:n.2958-6025_2958-6024del
XM_011525904.1:c.3163_3164del	XP_011524206.1:p.Lys1055ValfsTer16
XM_011525905.1:c.3163_3164del	XP_011524207.1:p.Lys1055ValfsTer16
XM_011525906.1:c.1663_1664del	XP_011524208.1:p.Lys555ValfsTer16
XM_011525907.1:c.3163_3164del	XP_011524209.1:p.Lys1055ValfsTer16
XM_011525908.1:c.3163_3164del	XP_011524210.1:p.Lys1055ValfsTer16
XR_430072.2:n.3201_3202del
XR_935213.1:n.3201_3202del
NM_001318520.1:c.424_425del	NP_001305449.1:p.Lys142ValfsTer16
XM_006722434.3:c.3163_3164del	XP_006722497.1:p.Lys1055ValfsTer16
XM_006722435.3:c.3163_3164del	XP_006722498.1:p.Lys1055ValfsTer16
XM_011525902.2:c.3146+633_3146+634del	XP_011524204.1:n.3146+633_3146+634del
XM_011525903.2:c.2958-6025_2958-6024del	XP_011524205.1:n.2958-6025_2958-6024del
XM_011525904.3:c.3163_3164del	XP_011524206.1:p.Lys1055ValfsTer16
XM_011525905.2:c.3163_3164del	XP_011524207.1:p.Lys1055ValfsTer16
XM_011525906.2:c.1663_1664del	XP_011524208.1:p.Lys555ValfsTer16
XM_011525907.2:c.3163_3164del	XP_011524209.1:p.Lys1055ValfsTer16
XM_011525908.3:c.3163_3164del	XP_011524210.1:p.Lys1055ValfsTer16
XM_017025693.1:c.3143+633_3143+634del	XP_016881182.1:n.3143+633_3143+634del
XM_017025694.1:c.2521_2522del	XP_016881183.1:p.Lys841ValfsTer16
XM_017025695.1:c.2098_2099del	XP_016881184.1:p.Lys700ValfsTer16
XM_017025696.1:c.1054_1055del	XP_016881185.1:p.Lys352ValfsTer16
XM_024451139.1:c.2383_2384del	XP_024306907.1:p.Lys795ValfsTer16
XM_024451140.1:c.2383_2384del	XP_024306908.1:p.Lys795ValfsTer16
XR_430072.3:n.3231_3232del
XR_935213.2:n.3231_3232del
NM_001318520.2:c.424_425del	NP_001305449.1:p.Lys142ValfsTer16
NM_173630.4:c.3160_3161del MANE Select	NP_775901.3:p.Lys1054ValfsTer16