Linked Data
dbSNP Id:
rs775164388
ExAC:
19:41518442 CT / C
gnomAD v2:
19-41518442-CT-C
gnomAD v4:
19-41012537-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012539del , CM000681.2:g.41012539del | GRCh38 |
| NC_000019.9:g.41518444del , CM000681.1:g.41518444del | GRCh37 |
| NC_000019.8:g.46210284del | NCBI36 |
| NG_007929.1:g.26241del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1152+54del MANE Select | ENSP00000324648.2:n.1152+54del | |
| ENST00000598834.2:c.1176+54del | ||
| ENST00000324071.8:c.1152+54del | ENSP00000324648.2:n.1152+54del | |
| ENST00000593831.1:c.444+54del | ENSP00000470582.1:n.444+54del | |
| ENST00000597612.1:n.647+54del | ||
| NM_000767.4:c.1152+54del | NP_000758.1:n.1152+54del | |
| XM_005258569.3:c.1152+54del | XP_005258626.1:n.1152+54del | |
| XM_006723050.2:c.1152+54del | XP_006723113.1:n.1152+54del | |
| XM_011526546.1:c.1152+54del | XP_011524848.1:n.1152+54del | |
| XM_011526547.1:c.1152+54del | XP_011524849.1:n.1152+54del | |
| XM_011526548.1:c.672+54del | XP_011524850.1:n.672+54del | |
| XM_011526549.1:c.561+54del | XP_011524851.1:n.561+54del | |
| XM_011526550.1:c.552+54del | XP_011524852.1:n.552+54del | |
| NM_000767.5:c.1152+54del MANE Select | NP_000758.1:n.1152+54del |