Linked Data
ClinVar Variation Id:
402246
ClinVar RCV Id:
RCV000488883
dbSNP Id:
rs1085307110
MyVariant Identifiers:
chr3:g.134369751_134369752insATGTCGATAGATACAGCACATGTCGATA (hg19)
chr3:g.134650909_134650910insATGTCGATAGATACAGCACATGTCGATA (hg38)
PubMed:
PMID:28488683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.134650909_134650910insATGTCGATAGATACAGCACATGTCGATA , CM000665.2:g.134650909_134650910insATGTCGATAGATACAGCACATGTCGATA | GRCh38 |
| NC_000003.11:g.134369751_134369752insATGTCGATAGATACAGCACATGTCGATA , CM000665.1:g.134369751_134369752insATGTCGATAGATACAGCACATGTCGATA | GRCh37 |
| NC_000003.10:g.135852441_135852442insATGTCGATAGATACAGCACATGTCGATA | NCBI36 |
| NG_054713.1:g.10144_10145insTATCGACATGTGCTGTATCTATCGACAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423778.7:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) MANE Select | ENSP00000397598.2:p.Val18TyrfsTer? | |
| ENST00000423778.6:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | ENSP00000397598.2:p.Val18TyrfsTer? | |
| ENST00000460895.5:c.-153+35471_-153+35472insATGTCGATAGATACAGCACATGTCGATA (EPHB1) | ENSP00000417435.1:n.-153+35471_-153+35472... | |
| ENST00000467708.2:n.361+35471_361+35472insATGTCGATAGATACAGCACATGTCGATA (EPHB1) | ||
| ENST00000503669.1:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | ENSP00000426777.1:p.Val18TyrfsTer? | |
| ENST00000506319.5:n.727_728insTATCGACATGTGCTGTATCTATCGACAT (KY) | ||
| ENST00000508956.5:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | ENSP00000421297.1:p.Val18TyrfsTer? | |
| NM_178554.4:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_848649.3:p.Val18TyrfsTer? | |
| XM_005247417.2:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_005247474.1:p.Val77TyrfsTer38 | |
| XM_005247418.2:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_005247475.1:p.Val77TyrfsTer? | |
| XM_006713612.2:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_006713675.1:p.Val77TyrfsTer38 | |
| XR_241572.2:n.540-7775_540-7774insATGTCGATAGATACAGCACATGTCGATA | ||
| XR_924521.1:n.540-22045_540-22044insATGTCGATAGATACAGCACATGTCGATA | ||
| NM_001350859.1:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001337788.1:p.Val18TyrfsTer? | |
| NM_001350860.1:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001337789.1:p.Val18TyrfsTer? | |
| NM_001366276.1:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001353205.1:p.Val18TyrfsTer? | |
| NM_001366277.1:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001353206.1:p.Val18TyrfsTer? | |
| NM_178554.5:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_848649.3:p.Val18TyrfsTer? | |
| XM_006713612.3:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_006713675.1:p.Val77TyrfsTer38 | |
| XM_017006287.1:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_016861776.1:p.Val77TyrfsTer? | |
| XM_017006288.1:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_016861777.1:p.Val77TyrfsTer38 | |
| XM_017006290.1:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_016861779.1:p.Val77TyrfsTer38 | |
| XM_024453389.1:c.-153+35471_-153+35472insATGTCGATAGATACAGCACATGTCGATA (EPHB1) | XP_024309157.1:n.-153+35471_-153+35472ins... | |
| XM_024453390.1:c.-153+35471_-153+35472insATGTCGATAGATACAGCACATGTCGATA (EPHB1) | XP_024309158.1:n.-153+35471_-153+35472ins... | |
| XM_024453508.1:c.228_229insTATCGACATGTGCTGTATCTATCGACAT (KY) | XP_024309276.1:p.Val77TyrfsTer38 | |
| XR_002959586.1:n.1927+35471_1927+35472insATGTCGATAGATACAGCACATGTCGATA (CEP63) | ||
| NM_178554.6:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) MANE Select | NP_848649.3:p.Val18TyrfsTer? | |
| NM_001350859.2:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001337788.1:p.Val18TyrfsTer? | |
| NM_001350860.2:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001337789.1:p.Val18TyrfsTer? | |
| NM_001366277.2:c.51_52insTATCGACATGTGCTGTATCTATCGACAT (KY) | NP_001353206.1:p.Val18TyrfsTer? |