Linked Data
ClinVar Variation Id:
557621
ClinVar RCV Id:
RCV000673787
dbSNP Id:
rs1555250190
gnomAD v3:
13-23333365-AATC-A
gnomAD v4:
13-23333365-AATC-A
MyVariant Identifiers:
chr13:g.23333366_23333368del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333366_23333368del , CM000675.2:g.23333366_23333368del | GRCh38 |
| NC_000013.10:g.23907505_23907507del , CM000675.1:g.23907505_23907507del | GRCh37 |
| NC_000013.9:g.22805505_22805507del | NCBI36 |
| NG_012342.1:g.105335_105337del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+20417_2185+20419del | ENSP00000508399.1:n.2185+20417_2185+20419del | |
| ENST00000682944.1:c.10535_10537del | ENSP00000507173.1:p.Arg3512_Leu3513delinsIle | |
| ENST00000683210.1:c.2185+20417_2185+20419del | ENSP00000506739.1:n.2185+20417_2185+20419del | |
| ENST00000683270.1:c.6446-3884_6446-3882del | ENSP00000507624.1:n.6446-3884_6446-3882del | |
| ENST00000683367.1:c.2177-3884_2177-3882del | ENSP00000507780.1:n.2177-3884_2177-3882del | |
| ENST00000683489.1:c.2292-3416_2292-3414del | ENSP00000508403.1:n.2292-3416_2292-3414del | |
| ENST00000683680.1:c.2319-3416_2319-3414del | ENSP00000507223.1:n.2319-3416_2319-3414del | |
| ENST00000684163.1:c.2204-3884_2204-3882del | ENSP00000508262.1:n.2204-3884_2204-3882del | |
| ENST00000684196.1:n.4543-3884_4543-3882del | ||
| ENST00000684325.1:c.2186-11694_2186-11692del | ENSP00000508121.1:n.2186-11694_2186-11692del | |
| ENST00000684385.1:c.2221-3884_2221-3882del | ENSP00000507855.1:n.2221-3884_2221-3882del | |
| ENST00000684497.1:c.2186-10724_2186-10722del | ENSP00000507057.1:n.2186-10724_2186-10722del | |
| ENST00000382292.9:c.10508_10510del MANE Select | ENSP00000371729.3:p.Arg3503_Leu3504delinsIle | |
| ENST00000423156.2:c.2186-3884_2186-3882del | ENSP00000390925.2:n.2186-3884_2186-3882del | |
| ENST00000455470.6:c.2432-3884_2432-3882del | ENSP00000406565.2:n.2432-3884_2432-3882del | |
| ENST00000382292.7:c.10508_10510del | ENSP00000371729.3:p.Arg3503_Leu3504delinsIle | |
| ENST00000382298.7:c.10508_10510del | ENSP00000371735.3:p.Arg3503_Leu3504delinsIle | |
| ENST00000402364.1:c.8258_8260del | ENSP00000385844.1:p.Arg2753_Leu2754delinsIle | |
| ENST00000423156.1:c.1058-3884_1058-3882del | ENSP00000390925.1:n.1058-3884_1058-3882del | |
| ENST00000455470.5:c.2130-3884_2130-3882del | ||
| NM_001278055.1:c.10067_10069del | NP_001264984.1:p.Arg3356_Leu3357delinsIle | |
| NM_014363.5:c.10508_10510del | NP_055178.3:p.Arg3503_Leu3504delinsIle | |
| XM_005266338.1:c.10535_10537del | XP_005266395.1:p.Arg3512_Leu3513delinsIle | |
| XM_011535038.1:c.10559_10561del | XP_011533340.1:p.Arg3520_Leu3521delinsIle | |
| XM_011535039.1:c.10526_10528del | XP_011533341.1:p.Arg3509_Leu3510delinsIle | |
| XM_005266338.2:c.10535_10537del | XP_005266395.1:p.Arg3512_Leu3513delinsIle | |
| XM_011535039.2:c.10526_10528del | XP_011533341.1:p.Arg3509_Leu3510delinsIle | |
| XM_017020539.1:c.10499_10501del | XP_016876028.1:p.Arg3500_Leu3501delinsIle | |
| XM_024449337.1:c.10535_10537del | XP_024305105.1:p.Arg3512_Leu3513delinsIle | |
| NM_014363.6:c.10508_10510del MANE Select | NP_055178.3:p.Arg3503_Leu3504delinsIle | |
| NM_001278055.2:c.10067_10069del | NP_001264984.1:p.Arg3356_Leu3357delinsIle |