HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100646745_100646746del , CM000669.2:g.100646745_100646746del | GRCh38 |
NC_000007.13:g.100244368_100244369del , CM000669.1:g.100244368_100244369del | GRCh37 |
NC_000007.12:g.100082304_100082305del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.1017+5_1017+6del MANE Select | ENSP00000160382.5:n.1017+5_1017+6del | |
ENST00000160382.9:c.1017+5_1017+6del | ENSP00000160382.5:n.1017+5_1017+6del | |
ENST00000487125.1:n.579+5_579+6del | ||
NM_016188.4:c.1017+5_1017+6del | NP_057272.1:n.1017+5_1017+6del | |
XR_927476.1:n.1124+5_1124+6del | ||
NR_134539.1:n.1124+5_1124+6del | ||
NM_016188.5:c.1017+5_1017+6del MANE Select | NP_057272.1:n.1017+5_1017+6del | |
NR_134539.2:n.1111+5_1111+6del |