Linked Data
dbSNP Id:
rs1564305767
gnomAD v2:
9-37436783-AACAGTAG-A
gnomAD v4:
9-37436786-AACAGTAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436788_37436794del , CM000671.2:g.37436788_37436794del | GRCh38 |
| NC_000009.11:g.37436785_37436791del , CM000671.1:g.37436785_37436791del | GRCh37 |
| NC_000009.10:g.37426785_37426791del | NCBI36 |
| NG_008135.1:g.19079_19085del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.*6_*12del MANE Select | ENSP00000313432.6:n.*6_*12del | |
| ENST00000318158.10:c.*6_*12del | ENSP00000313432.6:n.*6_*12del | |
| ENST00000460882.5:n.1020_1026del | ||
| ENST00000480596.5:n.1694_1700del | ||
| ENST00000494290.1:c.*52-93_*52-87del | ENSP00000432021.1:n.*52-93_*52-87del | |
| ENST00000497693.1:n.4561_4567del | ||
| NM_012203.1:c.*6_*12del | NP_036335.1:n.*6_*12del | |
| XM_005251631.1:c.*6_*12del | XP_005251688.1:n.*6_*12del | |
| XM_011518073.1:c.*6_*12del | XP_011516375.1:n.*6_*12del | |
| XM_017015320.2:c.946-623_946-617del | XP_016870809.1:n.946-623_946-617del | |
| XM_017015321.2:c.866-623_866-617del | XP_016870810.1:n.866-623_866-617del | |
| XM_017015323.2:c.544-623_544-617del | XP_016870812.1:n.544-623_544-617del | |
| XM_024447716.1:c.1219-623_1219-617del | XP_024303484.1:n.1219-623_1219-617del | |
| XM_024447717.1:c.1139-623_1139-617del | XP_024303485.1:n.1139-623_1139-617del | |
| XR_002956828.1:n.1234-623_1234-617del | ||
| XR_002956829.1:n.1154-623_1154-617del | ||
| XR_002956830.1:n.2413_2419del | ||
| XR_002956831.1:n.2088_2094del | ||
| XR_002956832.1:n.1412_1418del | ||
| NM_012203.2:c.*6_*12del MANE Select | NP_036335.1:n.*6_*12del |