HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21749625_21749626del , CM000669.2:g.21749625_21749626del | GRCh38 |
NC_000007.13:g.21789243_21789244del , CM000669.1:g.21789243_21789244del | GRCh37 |
NC_000007.12:g.21755768_21755769del | NCBI36 |
NG_012886.2:g.211411_211412del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.8674-53_8674-52del MANE Select | ENSP00000475939.1:n.8674-53_8674-52del | |
ENST00000328843.10:c.8695-53_8695-52del | ENSP00000330671.7:n.8695-53_8695-52del | |
ENST00000409508.7:c.8674-53_8674-52del | ENSP00000475939.1:n.8674-53_8674-52del | |
ENST00000620169.4:c.8695-53_8695-52del | ENSP00000481693.1:n.8695-53_8695-52del | |
NM_001277115.1:c.8674-53_8674-52del | NP_001264044.1:n.8674-53_8674-52del | |
NM_001277115.2:c.8674-53_8674-52del MANE Select | NP_001264044.1:n.8674-53_8674-52del |