Linked Data
dbSNP Id:
rs1567566639
gnomAD v2:
17-7126694-GTCAGC-G
gnomAD v4:
17-7223375-GTCAGC-G
MyVariant Identifiers:
chr17:g.7126695_7126699del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223382_7223386del , CM000679.2:g.7223382_7223386del | GRCh38 |
| NC_000017.10:g.7126701_7126705del , CM000679.1:g.7126701_7126705del | GRCh37 |
| NC_000017.9:g.7067425_7067429del | NCBI36 |
| NG_007975.1:g.8549_8553del | |
| NG_008391.2:g.1671_1675del | |
| NG_033038.1:g.16165_16169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1182+145_1182+149del MANE Select | ENSP00000349297.5:n.1182+145_1182+149del | |
| ENST00000322910.9:c.*1137+145_*1137+149del | ENSP00000325395.5:n.*1137+145_*1137+149del | |
| ENST00000350303.9:c.1116+145_1116+149del | ENSP00000344152.5:n.1116+145_1116+149del | |
| ENST00000356839.9:c.1182+145_1182+149del | ENSP00000349297.5:n.1182+145_1182+149del | |
| ENST00000542255.6:c.40+145_40+149del | ||
| ENST00000543245.6:c.1251+145_1251+149del | ENSP00000438689.2:n.1251+145_1251+149del | |
| ENST00000578579.2:n.132-40_132-36del | ||
| ENST00000578824.5:n.598+145_598+149del | ||
| ENST00000579425.5:n.206+145_206+149del | ||
| ENST00000579546.1:c.19+145_19+149del | ||
| ENST00000583858.5:c.211+145_211+149del | ||
| ENST00000585203.6:n.390+145_390+149del | ||
| NM_000018.3:c.1182+145_1182+149del | NP_000009.1:n.1182+145_1182+149del | |
| NM_001033859.2:c.1116+145_1116+149del | NP_001029031.1:n.1116+145_1116+149del | |
| NM_001270447.1:c.1251+145_1251+149del | NP_001257376.1:n.1251+145_1251+149del | |
| NM_001270448.1:c.954+145_954+149del | NP_001257377.1:n.954+145_954+149del | |
| XM_006721516.2:c.1182+145_1182+149del | XP_006721579.2:n.1182+145_1182+149del | |
| XM_011523829.1:c.1182+145_1182+149del | XP_011522131.1:n.1182+145_1182+149del | |
| XM_011523830.1:c.1182+145_1182+149del | XP_011522132.1:n.1182+145_1182+149del | |
| XR_934021.1:n.1289+145_1289+149del | ||
| XR_934022.1:n.1289+145_1289+149del | ||
| XR_934023.1:n.1289+145_1289+149del | ||
| XM_006721516.3:c.1182+145_1182+149del | XP_006721579.2:n.1182+145_1182+149del | |
| XM_011523829.2:c.1182+145_1182+149del | XP_011522131.1:n.1182+145_1182+149del | |
| XM_011523830.2:c.1182+145_1182+149del | XP_011522132.1:n.1182+145_1182+149del | |
| XM_024450741.1:c.1182+145_1182+149del | XP_024306509.1:n.1182+145_1182+149del | |
| XR_934021.2:n.1241+145_1241+149del | ||
| XR_934022.2:n.1241+145_1241+149del | ||
| XR_934023.2:n.1241+145_1241+149del | ||
| NM_000018.4:c.1182+145_1182+149del MANE Select | NP_000009.1:n.1182+145_1182+149del | |
| NM_001033859.3:c.1116+145_1116+149del | NP_001029031.1:n.1116+145_1116+149del | |
| NM_001270447.2:c.1251+145_1251+149del | NP_001257376.1:n.1251+145_1251+149del | |
| NM_001270448.2:c.954+145_954+149del | NP_001257377.1:n.954+145_954+149del |