HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667698_31667699del , CM000683.2:g.31667698_31667699del | GRCh38 |
NC_000021.8:g.33040011_33040012del , CM000683.1:g.33040011_33040012del | GRCh37 |
NC_000021.7:g.31961882_31961883del | NCBI36 |
NG_008689.1:g.13077_13078del , LRG_652:g.13077_13078del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.357+323_357+324del MANE Select | ENSP00000270142.7:n.357+323_357+324del | |
ENST00000270142.10:c.357+323_357+324del | ENSP00000270142.6:n.357+323_357+324del | |
ENST00000389995.4:c.300+323_300+324del | ENSP00000374645.4:n.300+323_300+324del | |
ENST00000470944.1:n.1285+323_1285+324del | ||
NM_000454.4:c.357+323_357+324del , LRG_652t1:c.357+323_357+324del | NP_000445.1:n.357+323_357+324del | |
NM_000454.5:c.357+323_357+324del MANE Select | NP_000445.1:n.357+323_357+324del |