Canonical Allele Identifier: CA781981876

Gene: RTTN

Linked Data

• dbSNP Id: rs1441634615
• gnomAD v3: 18-70127695-TCA-T
• gnomAD v4: 18-70127695-TCA-T
• MyVariant Identifiers: chr18:g.67794932_67794933del (hg19) ; chr18:g.70127696_70127697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127696_70127697del , CM000680.2:g.70127696_70127697del	GRCh38
NC_000018.9:g.67794932_67794933del , CM000680.1:g.67794932_67794933del	GRCh37
NC_000018.8:g.65945912_65945913del	NCBI36
NG_033104.1:g.83030_83031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3188_3189del	ENSP00000255674.7:p.Leu1063GlnfsTer7
ENST00000638251.1:c.*1180_*1181del	ENSP00000491968.1:n.*1180_*1181del
ENST00000638298.1:c.177_178del
ENST00000639128.1:n.734_735del
ENST00000640376.1:c.2624+661_2624+662del	ENSP00000491654.1:n.2624+661_2624+662del
ENST00000640408.1:n.3620_3621del
ENST00000640769.2:c.3188_3189del MANE Select	ENSP00000491507.1:p.Leu1063GlnfsTer7
ENST00000640931.1:c.409_410del
ENST00000677824.1:c.783-5997_783-5996del	ENSP00000504646.1:n.783-5997_783-5996del
ENST00000679113.1:c.410_411del	ENSP00000504487.1:p.Leu137GlnfsTer7
ENST00000255674.10:c.3188_3189del	ENSP00000255674.6:p.Leu1063GlnfsTer7
ENST00000581161.5:c.*1502_*1503del	ENSP00000462926.1:n.*1502_*1503del
ENST00000583043.5:c.2469_2470del	ENSP00000462733.1:n.2469_2470del
NM_173630.3:c.3188_3189del	NP_775901.3:p.Leu1063GlnfsTer7
XM_005266679.1:c.452_453del	XP_005266736.1:p.Leu151GlnfsTer7
XM_006722434.2:c.3191_3192del	XP_006722497.1:p.Leu1064GlnfsTer7
XM_006722435.2:c.3191_3192del	XP_006722498.1:p.Leu1064GlnfsTer7
XM_011525902.1:c.3146+661_3146+662del	XP_011524204.1:n.3146+661_3146+662del
XM_011525903.1:c.2958-5997_2958-5996del	XP_011524205.1:n.2958-5997_2958-5996del
XM_011525904.1:c.3191_3192del	XP_011524206.1:p.Leu1064GlnfsTer7
XM_011525905.1:c.3191_3192del	XP_011524207.1:p.Leu1064GlnfsTer7
XM_011525906.1:c.1691_1692del	XP_011524208.1:p.Leu564GlnfsTer7
XM_011525907.1:c.3191_3192del	XP_011524209.1:p.Leu1064GlnfsTer7
XM_011525908.1:c.3191_3192del	XP_011524210.1:p.Leu1064GlnfsTer7
XR_430072.2:n.3229_3230del
XR_935213.1:n.3229_3230del
NM_001318520.1:c.452_453del	NP_001305449.1:p.Leu151GlnfsTer7
XM_006722434.3:c.3191_3192del	XP_006722497.1:p.Leu1064GlnfsTer7
XM_006722435.3:c.3191_3192del	XP_006722498.1:p.Leu1064GlnfsTer7
XM_011525902.2:c.3146+661_3146+662del	XP_011524204.1:n.3146+661_3146+662del
XM_011525903.2:c.2958-5997_2958-5996del	XP_011524205.1:n.2958-5997_2958-5996del
XM_011525904.3:c.3191_3192del	XP_011524206.1:p.Leu1064GlnfsTer7
XM_011525905.2:c.3191_3192del	XP_011524207.1:p.Leu1064GlnfsTer7
XM_011525906.2:c.1691_1692del	XP_011524208.1:p.Leu564GlnfsTer7
XM_011525907.2:c.3191_3192del	XP_011524209.1:p.Leu1064GlnfsTer7
XM_011525908.3:c.3191_3192del	XP_011524210.1:p.Leu1064GlnfsTer7
XM_017025693.1:c.3143+661_3143+662del	XP_016881182.1:n.3143+661_3143+662del
XM_017025694.1:c.2549_2550del	XP_016881183.1:p.Leu850GlnfsTer7
XM_017025695.1:c.2126_2127del	XP_016881184.1:p.Leu709GlnfsTer7
XM_017025696.1:c.1082_1083del	XP_016881185.1:p.Leu361GlnfsTer7
XM_024451139.1:c.2411_2412del	XP_024306907.1:p.Leu804GlnfsTer7
XM_024451140.1:c.2411_2412del	XP_024306908.1:p.Leu804GlnfsTer7
XR_430072.3:n.3259_3260del
XR_935213.2:n.3259_3260del
NM_001318520.2:c.452_453del	NP_001305449.1:p.Leu151GlnfsTer7
NM_173630.4:c.3188_3189del MANE Select	NP_775901.3:p.Leu1063GlnfsTer7