Linked Data
dbSNP Id:
rs1442883717
gnomAD v2:
7-150644323-CACAG-C
gnomAD v3:
7-150947235-CACAG-C
gnomAD v4:
7-150947235-CACAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947240_150947243del , CM000669.2:g.150947240_150947243del | GRCh38 |
| NC_000007.13:g.150644328_150644331del , CM000669.1:g.150644328_150644331del | GRCh37 |
| NC_000007.12:g.150275261_150275264del | NCBI36 |
| NG_008916.1:g.35688_35691del , LRG_288:g.35688_35691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3985+89_3985+92del | ||
| ENST00000262186.10:c.3152+89_3152+92del MANE Select | ENSP00000262186.5:n.3152+89_3152+92del | |
| ENST00000330883.9:c.2132+89_2132+92del | ENSP00000328531.4:n.2132+89_2132+92del | |
| ENST00000262186.9:c.3152+89_3152+92del | ENSP00000262186.5:n.3152+89_3152+92del | |
| ENST00000330883.8:c.2132+89_2132+92del | ENSP00000328531.4:n.2132+89_2132+92del | |
| NM_000238.3:c.3152+89_3152+92del , LRG_288t1:c.3152+89_3152+92del | NP_000229.1:n.3152+89_3152+92del | |
| NM_172057.2:c.2132+89_2132+92del , LRG_288t3:c.2132+89_2132+92del | NP_742054.1:n.2132+89_2132+92del | |
| XM_011516185.1:c.2852+89_2852+92del | XP_011514487.1:n.2852+89_2852+92del | |
| XM_011516185.2:c.2852+89_2852+92del | XP_011514487.1:n.2852+89_2852+92del | |
| XM_017012195.1:c.3002+89_3002+92del | XP_016867684.1:n.3002+89_3002+92del | |
| XM_017012196.1:c.2975+89_2975+92del | XP_016867685.1:n.2975+89_2975+92del | |
| NM_000238.4:c.3152+89_3152+92del MANE Select | NP_000229.1:n.3152+89_3152+92del | |
| NM_172057.3:c.2132+89_2132+92del | NP_742054.1:n.2132+89_2132+92del |