Linked Data
dbSNP Id:
rs1174819032
gnomAD v2:
14-20925071-TTCTC-T
gnomAD v3:
14-20456912-TTCTC-T
gnomAD v4:
14-20456912-TTCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456914_20456917del , CM000676.2:g.20456914_20456917del | GRCh38 |
| NC_000014.8:g.20925073_20925076del , CM000676.1:g.20925073_20925076del | GRCh37 |
| NC_000014.7:g.19994913_19994916del | NCBI36 |
| NG_008718.1:g.6784_6787del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.439+54_439+57del MANE Select | ENSP00000216714.3:n.439+54_439+57del | |
| ENST00000216714.7:c.439+54_439+57del | ENSP00000216714.3:n.439+54_439+57del | |
| ENST00000398030.8:c.439+54_439+57del | ENSP00000381111.4:n.439+54_439+57del | |
| ENST00000438886.1:c.288+54_288+57del | ||
| ENST00000553555.5:n.859+54_859+57del | ||
| ENST00000553681.5:c.439+54_439+57del | ENSP00000451327.1:n.439+54_439+57del | |
| ENST00000554813.5:n.505+54_505+57del | ||
| ENST00000555306.5:n.886+54_886+57del | ||
| ENST00000555414.5:c.439+54_439+57del | ENSP00000451979.1:n.439+54_439+57del | |
| ENST00000555839.5:c.439+54_439+57del | ENSP00000452460.1:n.439+54_439+57del | |
| ENST00000556054.5:c.439+54_439+57del | ENSP00000451170.1:n.439+54_439+57del | |
| ENST00000557054.1:c.28-209_28-206del | ENSP00000452212.2:n.28-209_28-206del | |
| ENST00000557150.5:c.388+54_388+57del | ENSP00000452418.1:n.388+54_388+57del | |
| ENST00000557159.5:n.1055+54_1055+57del | ||
| ENST00000557365.1:n.519+54_519+57del | ||
| ENST00000557592.5:c.388+54_388+57del | ENSP00000451060.1:n.388+54_388+57del | |
| NM_001244249.1:c.439+54_439+57del | NP_001231178.1:n.439+54_439+57del | |
| NM_001641.3:c.439+54_439+57del | NP_001632.2:n.439+54_439+57del | |
| NM_080648.2:c.439+54_439+57del | NP_542379.1:n.439+54_439+57del | |
| NM_080649.2:c.439+54_439+57del | NP_542380.1:n.439+54_439+57del | |
| XM_005267581.3:c.439+54_439+57del | XP_005267638.1:n.439+54_439+57del | |
| XM_005267582.3:c.388+54_388+57del | XP_005267639.1:n.388+54_388+57del | |
| NM_001641.4:c.439+54_439+57del MANE Select | NP_001632.2:n.439+54_439+57del | |
| NM_001244249.2:c.439+54_439+57del | NP_001231178.1:n.439+54_439+57del | |
| NM_080648.3:c.439+54_439+57del | NP_542379.1:n.439+54_439+57del | |
| NM_080649.3:c.439+54_439+57del | NP_542380.1:n.439+54_439+57del |