HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848372_40848373delinsAT , CM000681.2:g.40848372_40848373delinsAT | GRCh38 |
NC_000019.9:g.41354277_41354278delinsAT , CM000681.1:g.41354277_41354278delinsAT | GRCh37 |
NC_000019.8:g.46046117_46046118delinsAT | NCBI36 |
NG_008377.1:g.7075_7076delinsAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.500_501delinsAT MANE Select | ENSP00000301141.4:p.Asn167= | |
ENST00000301141.9:c.500_501delinsAT | ENSP00000301141.4:p.Asn167= | |
ENST00000596719.5:n.351_352delinsAT | ||
ENST00000600495.1:c.*312_*313delinsAT | ENSP00000472905.1:n.*312_*313delinsAT | |
ENST00000601627.1:c.120-43619_120-43618delinsAT | ||
ENST00000610301.1:c.500_501delinsAT | ENSP00000477899.1:p.Asn167= | |
NM_000762.5:c.500_501delinsAT | NP_000753.3:p.Asn167= | |
NM_000762.6:c.500_501delinsAT MANE Select | NP_000753.3:p.Asn167= |