Linked Data
dbSNP Id:
rs1783645970
gnomAD v3:
7-32337283-G-GTCAATCTT
gnomAD v4:
7-32337283-G-GTCAATCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32337283_32337284insTCAATCTT , CM000669.2:g.32337283_32337284insTCAATCTT | GRCh38 |
| NC_000007.13:g.32376895_32376896insTCAATCTT , CM000669.1:g.32376895_32376896insTCAATCTT | GRCh37 |
| NC_000007.12:g.32343420_32343421insTCAATCTT | NCBI36 |
| NG_051183.1:g.95941_95942insAAGATTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+90538_310+90539insAAGATTGA | ENSP00000499831.1:n.310+90538_310+90539insAAGATTGA | |
| NM_001322059.1:c.310+90538_310+90539insAAGATTGA | NP_001308988.1:n.310+90538_310+90539insAAGATTGA | |
| NM_001322059.2:c.310+90538_310+90539insAAGATTGA | NP_001308988.1:n.310+90538_310+90539insAAGATTGA |