Linked Data
dbSNP Id:
rs1658298329
gnomAD v3:
1-150346640-CCTCCTAGACATT-C
gnomAD v4:
1-150346640-CCTCCTAGACATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150346642_150346653del , CM000663.2:g.150346642_150346653del | GRCh38 |
| NC_000001.10:g.150319118_150319129del , CM000663.1:g.150319118_150319129del | GRCh37 |
| NC_000001.9:g.148585742_148585753del | NCBI36 |
| NG_008245.1:g.30191_30202del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324862.7:c.1843+151_1843+162del MANE Select | ENSP00000315379.6:n.1843+151_1843+162del | |
| ENST00000324862.6:c.1843+151_1843+162del | ENSP00000315379.6:n.1843+151_1843+162del | |
| ENST00000467329.5:n.2170+151_2170+162del | ||
| ENST00000476970.1:n.952+151_952+162del | ||
| NM_004698.2:c.1843+151_1843+162del | NP_004689.1:n.1843+151_1843+162del | |
| XM_011510128.1:c.1853+141_1853+152del | XP_011508430.1:n.1853+141_1853+152del | |
| XM_011510129.1:c.1438+151_1438+162del | XP_011508431.1:n.1438+151_1438+162del | |
| XM_011510130.1:c.1411+151_1411+162del | XP_011508432.1:n.1411+151_1411+162del | |
| XR_241103.1:n.1826+151_1826+162del | ||
| XR_921997.1:n.1836+141_1836+152del | ||
| XR_921998.1:n.1940+151_1940+162del | ||
| NM_001350529.1:c.1438+151_1438+162del | NP_001337458.1:n.1438+151_1438+162del | |
| NM_004698.3:c.1843+151_1843+162del | NP_004689.1:n.1843+151_1843+162del | |
| NR_146766.1:n.2074+151_2074+162del | ||
| NR_146767.1:n.2170+151_2170+162del | ||
| NR_146768.1:n.2026+141_2026+152del | ||
| NR_146769.1:n.2079+141_2079+152del | ||
| XM_011510130.3:c.1411+151_1411+162del | XP_011508432.1:n.1411+151_1411+162del | |
| XM_017002790.1:c.1411+151_1411+162del | XP_016858279.1:n.1411+151_1411+162del | |
| XR_001737536.2:n.1876+151_1876+162del | ||
| XR_001737537.2:n.1990+151_1990+162del | ||
| XR_001737540.2:n.2747+151_2747+162del | ||
| XR_001737541.2:n.1770+151_1770+162del | ||
| XR_002958009.1:n.2500+151_2500+162del | ||
| XR_002958010.1:n.3746+141_3746+152del | ||
| XR_002958012.1:n.1942+141_1942+152del | ||
| XR_241103.3:n.1818+151_1818+162del | ||
| XR_921997.3:n.1828+141_1828+152del | ||
| XR_921998.3:n.1932+151_1932+162del | ||
| NM_004698.4:c.1843+151_1843+162del MANE Select | NP_004689.1:n.1843+151_1843+162del |