Linked Data
gnomAD v2:
7-143048650-A-ATTTT
gnomAD v3:
7-143351557-A-ATTTT
gnomAD v4:
7-143351557-A-ATTTT
MyVariant Identifiers:
chr7:g.143048650_143048651insTTTT (hg19)
chr7:g.143351557_143351558insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351557_143351558insTTTT , CM000669.2:g.143351557_143351558insTTTT | GRCh38 |
| NC_000007.13:g.143048650_143048651insTTTT , CM000669.1:g.143048650_143048651insTTTT | GRCh37 |
| NC_000007.12:g.142758772_142758773insTTTT | NCBI36 |
| NG_009815.1:g.40432_40433insTTTT | |
| NG_009815.2:g.40432_40433insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2596-37_2596-36insTTTT | ENSP00000498052.2:n.2596-37_2596-36insTTTT | |
| ENST00000343257.7:c.2596-37_2596-36insTTTT MANE Select | ENSP00000339867.2:n.2596-37_2596-36insTTTT | |
| ENST00000432192.6:c.2420-37_2420-36insTTTT | ||
| ENST00000343257.6:c.2596-37_2596-36insTTTT | ENSP00000339867.2:n.2596-37_2596-36insTTTT | |
| NM_000083.2:c.2596-37_2596-36insTTTT | NP_000074.2:n.2596-37_2596-36insTTTT | |
| NR_046453.1:n.2536-37_2536-36insTTTT | ||
| XM_011515781.1:c.2620-37_2620-36insTTTT | XP_011514083.1:n.2620-37_2620-36insTTTT | |
| XM_011515782.1:c.1342-37_1342-36insTTTT | XP_011514084.1:n.1342-37_1342-36insTTTT | |
| XM_011515782.2:c.1342-37_1342-36insTTTT | XP_011514084.1:n.1342-37_1342-36insTTTT | |
| XM_017011739.1:c.2170-37_2170-36insTTTT | XP_016867228.1:n.2170-37_2170-36insTTTT | |
| XM_017011740.1:c.2146-37_2146-36insTTTT | XP_016867229.1:n.2146-37_2146-36insTTTT | |
| NM_000083.3:c.2596-37_2596-36insTTTT MANE Select | NP_000074.3:n.2596-37_2596-36insTTTT | |
| NR_046453.2:n.2551-37_2551-36insTTTT |