HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985943_1985945delinsACC , CM000678.2:g.1985943_1985945delinsACC | GRCh38 |
NC_000016.9:g.2035944_2035946delinsACC , CM000678.1:g.2035944_2035946delinsACC | GRCh37 |
NC_000016.8:g.1975945_1975947delinsACC | NCBI36 |
NG_016288.1:g.6795_6797delinsACC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.308_310delinsACC | ENSP00000455885.1:p.Asn103= | |
ENST00000248114.7:c.533_535delinsACC MANE Select | ENSP00000248114.6:p.Asn178= | |
ENST00000248114.6:c.533_535delinsACC | ENSP00000248114.6:p.Asn178= | |
ENST00000565658.1:n.690_692delinsACC | ||
ENST00000567719.1:c.308_310delinsACC | ENSP00000455885.1:p.Asn103= | |
ENST00000569451.1:c.*6_*8delinsACC | ENSP00000456432.1:n.*6_*8delinsACC | |
NM_005262.2:c.533_535delinsACC | NP_005253.3:p.Asn178= | |
NM_005262.3:c.533_535delinsACC MANE Select | NP_005253.3:p.Asn178= |