Linked Data
dbSNP Id:
rs760771793
ExAC:
5:37045749 CTG / C
gnomAD v2:
5-37045749-CTG-C
gnomAD v4:
5-37045647-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37045650_37045651del , CM000667.2:g.37045650_37045651del | GRCh38 |
| NC_000005.9:g.37045752_37045753del , CM000667.1:g.37045752_37045753del | GRCh37 |
| NC_000005.8:g.37081509_37081510del | NCBI36 |
| NG_006987.1:g.173768_173769del | |
| NG_006987.2:g.173768_173769del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.6498+53_6498+54del MANE Select | ENSP00000282516.8:n.6498+53_6498+54del | |
| ENST00000652901.1:c.6498+53_6498+54del | ENSP00000499536.1:n.6498+53_6498+54del | |
| ENST00000282516.12:c.6498+53_6498+54del | ENSP00000282516.8:n.6498+53_6498+54del | |
| ENST00000448238.2:c.6498+53_6498+54del | ENSP00000406266.2:n.6498+53_6498+54del | |
| ENST00000621733.1:c.1-18928_1-18927del | ENSP00000480694.1:n.1-18928_1-18927del | |
| NM_015384.4:c.6498+53_6498+54del | NP_056199.2:n.6498+53_6498+54del | |
| NM_133433.3:c.6498+53_6498+54del | NP_597677.2:n.6498+53_6498+54del | |
| XM_005248280.2:c.6498+53_6498+54del | XP_005248337.1:n.6498+53_6498+54del | |
| XM_005248282.3:c.5754+53_5754+54del | XP_005248339.2:n.5754+53_5754+54del | |
| XM_006714467.2:c.6498+53_6498+54del | XP_006714530.1:n.6498+53_6498+54del | |
| XM_006714468.1:c.6300+53_6300+54del | XP_006714531.1:n.6300+53_6300+54del | |
| XM_011514014.1:c.6117+53_6117+54del | XP_011512316.1:n.6117+53_6117+54del | |
| XM_011514015.1:c.6498+53_6498+54del | XP_011512317.1:n.6498+53_6498+54del | |
| XM_005248280.3:c.6498+53_6498+54del | XP_005248337.1:n.6498+53_6498+54del | |
| XM_005248282.5:c.5838+53_5838+54del | XP_005248339.3:n.5838+53_5838+54del | |
| XM_006714468.2:c.6300+53_6300+54del | XP_006714531.1:n.6300+53_6300+54del | |
| XM_017009329.1:c.6498+53_6498+54del | XP_016864818.1:n.6498+53_6498+54del | |
| XM_017009330.2:c.4881+53_4881+54del | XP_016864819.1:n.4881+53_4881+54del | |
| XM_017009331.1:c.4872+53_4872+54del | XP_016864820.1:n.4872+53_4872+54del | |
| NM_133433.4:c.6498+53_6498+54del MANE Select | NP_597677.2:n.6498+53_6498+54del | |
| NM_015384.5:c.6498+53_6498+54del | NP_056199.2:n.6498+53_6498+54del |