Linked Data
dbSNP Id:
rs80356698
MyVariant Identifiers:
chr7:g.143047664_143047665insCTCA (hg19)
chr7:g.143350571_143350572insCTCA (hg38)
PubMed:
PMID:20301529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350571_143350572insCTCA , CM000669.2:g.143350571_143350572insCTCA | GRCh38 |
| NC_000007.13:g.143047664_143047665insCTCA , CM000669.1:g.143047664_143047665insCTCA | GRCh37 |
| NC_000007.12:g.142757786_142757787insCTCA | NCBI36 |
| NG_009815.1:g.39446_39447insCTCA | |
| NG_009815.2:g.39446_39447insCTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.2512_2513insCTCA | ENSP00000498052.2:p.His838ProfsTer? | |
| ENST00000343257.7:c.2512_2513insCTCA MANE Select | ENSP00000339867.2:p.His838ProfsTer? | |
| ENST00000432192.6:c.2336_2337insCTCA | ||
| ENST00000343257.6:c.2512_2513insCTCA | ENSP00000339867.2:p.His838ProfsTer? | |
| NM_000083.2:c.2512_2513insCTCA | NP_000074.2:p.His838ProfsTer? | |
| NR_046453.1:n.2452_2453insCTCA | ||
| XM_011515781.1:c.2536_2537insCTCA | XP_011514083.1:p.His846ProfsTer? | |
| XM_011515782.1:c.1258_1259insCTCA | XP_011514084.1:p.His420ProfsTer? | |
| XM_011515782.2:c.1258_1259insCTCA | XP_011514084.1:p.His420ProfsTer? | |
| XM_017011739.1:c.2086_2087insCTCA | XP_016867228.1:p.His696ProfsTer? | |
| XM_017011740.1:c.2062_2063insCTCA | XP_016867229.1:p.His688ProfsTer? | |
| NM_000083.3:c.2512_2513insCTCA MANE Select | NP_000074.3:p.His838ProfsTer? | |
| NR_046453.2:n.2467_2468insCTCA |