Canonical Allele Identifier: CA301963263

Gene: RTTN

Linked Data

• dbSNP Id: rs546465447
• gnomAD v2: 18-67795232-TAA-T
• gnomAD v3: 18-70127996-TAA-T
• gnomAD v4: 18-70127996-TAA-T
• MyVariant Identifiers: chr18:g.67795233_67795234del (hg19) ; chr18:g.70127997_70127998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127997_70127998del , CM000680.2:g.70127997_70127998del	GRCh38
NC_000018.9:g.67795233_67795234del , CM000680.1:g.67795233_67795234del	GRCh37
NC_000018.8:g.65946213_65946214del	NCBI36
NG_033104.1:g.82729_82730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3144-257_3144-256del	ENSP00000255674.7:n.3144-257_3144-256del
ENST00000638251.1:c.*1136-257_*1136-256del	ENSP00000491968.1:n.*1136-257_*1136-256del
ENST00000638298.1:c.132+56_132+57del
ENST00000639128.1:n.690-257_690-256del
ENST00000640376.1:c.2624+360_2624+361del	ENSP00000491654.1:n.2624+360_2624+361del
ENST00000640408.1:n.3576-257_3576-256del
ENST00000640769.2:c.3144-257_3144-256del MANE Select	ENSP00000491507.1:n.3144-257_3144-256del
ENST00000640931.1:c.365-257_365-256del
ENST00000677824.1:c.783-6298_783-6297del	ENSP00000504646.1:n.783-6298_783-6297del
ENST00000679113.1:c.366-257_366-256del	ENSP00000504487.1:n.366-257_366-256del
ENST00000255674.10:c.3144-257_3144-256del	ENSP00000255674.6:n.3144-257_3144-256del
ENST00000581161.5:c.*1458-257_*1458-256del	ENSP00000462926.1:n.*1458-257_*1458-256del
ENST00000583043.5:c.2425-257_2425-256del	ENSP00000462733.1:n.2425-257_2425-256del
NM_173630.3:c.3144-257_3144-256del	NP_775901.3:n.3144-257_3144-256del
XM_005266679.1:c.408-257_408-256del	XP_005266736.1:n.408-257_408-256del
XM_006722434.2:c.3147-257_3147-256del	XP_006722497.1:n.3147-257_3147-256del
XM_006722435.2:c.3147-257_3147-256del	XP_006722498.1:n.3147-257_3147-256del
XM_011525902.1:c.3146+360_3146+361del	XP_011524204.1:n.3146+360_3146+361del
XM_011525903.1:c.2958-6298_2958-6297del	XP_011524205.1:n.2958-6298_2958-6297del
XM_011525904.1:c.3147-257_3147-256del	XP_011524206.1:n.3147-257_3147-256del
XM_011525905.1:c.3147-257_3147-256del	XP_011524207.1:n.3147-257_3147-256del
XM_011525906.1:c.1647-257_1647-256del	XP_011524208.1:n.1647-257_1647-256del
XM_011525907.1:c.3147-257_3147-256del	XP_011524209.1:n.3147-257_3147-256del
XM_011525908.1:c.3147-257_3147-256del	XP_011524210.1:n.3147-257_3147-256del
XR_430072.2:n.3185-257_3185-256del
XR_935213.1:n.3185-257_3185-256del
NM_001318520.1:c.408-257_408-256del	NP_001305449.1:n.408-257_408-256del
XM_006722434.3:c.3147-257_3147-256del	XP_006722497.1:n.3147-257_3147-256del
XM_006722435.3:c.3147-257_3147-256del	XP_006722498.1:n.3147-257_3147-256del
XM_011525902.2:c.3146+360_3146+361del	XP_011524204.1:n.3146+360_3146+361del
XM_011525903.2:c.2958-6298_2958-6297del	XP_011524205.1:n.2958-6298_2958-6297del
XM_011525904.3:c.3147-257_3147-256del	XP_011524206.1:n.3147-257_3147-256del
XM_011525905.2:c.3147-257_3147-256del	XP_011524207.1:n.3147-257_3147-256del
XM_011525906.2:c.1647-257_1647-256del	XP_011524208.1:n.1647-257_1647-256del
XM_011525907.2:c.3147-257_3147-256del	XP_011524209.1:n.3147-257_3147-256del
XM_011525908.3:c.3147-257_3147-256del	XP_011524210.1:n.3147-257_3147-256del
XM_017025693.1:c.3143+360_3143+361del	XP_016881182.1:n.3143+360_3143+361del
XM_017025694.1:c.2505-257_2505-256del	XP_016881183.1:n.2505-257_2505-256del
XM_017025695.1:c.2082-257_2082-256del	XP_016881184.1:n.2082-257_2082-256del
XM_017025696.1:c.1038-257_1038-256del	XP_016881185.1:n.1038-257_1038-256del
XM_024451139.1:c.2367-257_2367-256del	XP_024306907.1:n.2367-257_2367-256del
XM_024451140.1:c.2367-257_2367-256del	XP_024306908.1:n.2367-257_2367-256del
XR_430072.3:n.3215-257_3215-256del
XR_935213.2:n.3215-257_3215-256del
NM_001318520.2:c.408-257_408-256del	NP_001305449.1:n.408-257_408-256del
NM_173630.4:c.3144-257_3144-256del MANE Select	NP_775901.3:n.3144-257_3144-256del