HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648429_152648430del , CM000669.2:g.152648429_152648430del | GRCh38 |
NC_000007.13:g.152345514_152345515del , CM000669.1:g.152345514_152345515del | GRCh37 |
NC_000007.12:g.151976447_151976448del | NCBI36 |
NG_027988.1:g.32737_32738del | |
NG_027988.2:g.32737_32738del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.*213_*214del | ENSP00000513758.1:n.*213_*214del | |
ENST00000359321.2:c.*213_*214del MANE Select | ENSP00000352271.1:n.*213_*214del | |
ENST00000359321.1:c.*213_*214del | ENSP00000352271.1:n.*213_*214del | |
ENST00000495707.1:n.1078_1079del | ||
NM_005431.1:c.*213_*214del | NP_005422.1:n.*213_*214del | |
NM_005431.2:c.*213_*214del MANE Select | NP_005422.1:n.*213_*214del |