Linked Data
dbSNP Id:
rs1160765516
gnomAD v2:
17-7126731-T-TTCTGC
gnomAD v3:
17-7223412-T-TTCTGC
gnomAD v4:
17-7223412-T-TTCTGC
MyVariant Identifiers:
chr17:g.7126731_7126732insTCTGC (hg19)
chr17:g.7223412_7223413insTCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223415_7223419dup , CM000679.2:g.7223415_7223419dup | GRCh38 |
| NC_000017.10:g.7126734_7126738dup , CM000679.1:g.7126734_7126738dup | GRCh37 |
| NC_000017.9:g.7067458_7067462dup | NCBI36 |
| NG_007975.1:g.8582_8586dup | |
| NG_008391.2:g.1634_1638dup | |
| NG_033038.1:g.16128_16132dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1182+178_1182+182dup MANE Select | ENSP00000349297.5:n.1182+178_1182+182dup | |
| ENST00000322910.9:c.*1137+178_*1137+182dup | ENSP00000325395.5:n.*1137+178_*1137+182dup | |
| ENST00000350303.9:c.1116+178_1116+182dup | ENSP00000344152.5:n.1116+178_1116+182dup | |
| ENST00000356839.9:c.1182+178_1182+182dup | ENSP00000349297.5:n.1182+178_1182+182dup | |
| ENST00000542255.6:c.40+178_40+182dup | ||
| ENST00000543245.6:c.1251+178_1251+182dup | ENSP00000438689.2:n.1251+178_1251+182dup | |
| ENST00000578579.2:n.132-7_132-3dup | ||
| ENST00000578824.5:n.598+178_598+182dup | ||
| ENST00000579425.5:n.206+178_206+182dup | ||
| ENST00000579546.1:c.19+178_19+182dup | ||
| ENST00000583858.5:c.211+178_211+182dup | ||
| ENST00000585203.6:n.390+178_390+182dup | ||
| NM_000018.3:c.1182+178_1182+182dup | NP_000009.1:n.1182+178_1182+182dup | |
| NM_001033859.2:c.1116+178_1116+182dup | NP_001029031.1:n.1116+178_1116+182dup | |
| NM_001270447.1:c.1251+178_1251+182dup | NP_001257376.1:n.1251+178_1251+182dup | |
| NM_001270448.1:c.954+178_954+182dup | NP_001257377.1:n.954+178_954+182dup | |
| XM_006721516.2:c.1182+178_1182+182dup | XP_006721579.2:n.1182+178_1182+182dup | |
| XM_011523829.1:c.1182+178_1182+182dup | XP_011522131.1:n.1182+178_1182+182dup | |
| XM_011523830.1:c.1182+178_1182+182dup | XP_011522132.1:n.1182+178_1182+182dup | |
| XR_934021.1:n.1289+178_1289+182dup | ||
| XR_934022.1:n.1289+178_1289+182dup | ||
| XR_934023.1:n.1289+178_1289+182dup | ||
| XM_006721516.3:c.1182+178_1182+182dup | XP_006721579.2:n.1182+178_1182+182dup | |
| XM_011523829.2:c.1182+178_1182+182dup | XP_011522131.1:n.1182+178_1182+182dup | |
| XM_011523830.2:c.1182+178_1182+182dup | XP_011522132.1:n.1182+178_1182+182dup | |
| XM_024450741.1:c.1182+178_1182+182dup | XP_024306509.1:n.1182+178_1182+182dup | |
| XR_934021.2:n.1241+178_1241+182dup | ||
| XR_934022.2:n.1241+178_1241+182dup | ||
| XR_934023.2:n.1241+178_1241+182dup | ||
| NM_000018.4:c.1182+178_1182+182dup MANE Select | NP_000009.1:n.1182+178_1182+182dup | |
| NM_001033859.3:c.1116+178_1116+182dup | NP_001029031.1:n.1116+178_1116+182dup | |
| NM_001270447.2:c.1251+178_1251+182dup | NP_001257376.1:n.1251+178_1251+182dup | |
| NM_001270448.2:c.954+178_954+182dup | NP_001257377.1:n.954+178_954+182dup |