HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15180229_15180231del , CM000681.2:g.15180229_15180231del | GRCh38 |
NC_000019.9:g.15291040_15291042del , CM000681.1:g.15291040_15291042del | GRCh37 |
NC_000019.8:g.15152040_15152042del | NCBI36 |
NG_009819.1:g.25753_25755del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263388.7:c.3170_3172del MANE Select | ENSP00000263388.1:p.Ala1057del | |
ENST00000263388.6:c.3170_3172del | ENSP00000263388.1:p.Ala1057del | |
ENST00000601011.1:c.3011_3013del | ENSP00000473138.1:p.Ala1004del | |
NM_000435.2:c.3170_3172del | NP_000426.2:p.Ala1057del | |
XM_005259924.3:c.3014_3016del | XP_005259981.1:p.Ala1005del | |
XM_005259924.4:c.3014_3016del | XP_005259981.1:p.Ala1005del | |
NM_000435.3:c.3170_3172del MANE Select | NP_000426.2:p.Ala1057del |