HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119179_176119193dup , CM000664.2:g.176119179_176119193dup | GRCh38 |
NC_000002.11:g.176983907_176983921dup , CM000664.1:g.176983907_176983921dup | GRCh37 |
NC_000002.10:g.176692153_176692167dup | NCBI36 |
NG_008133.2:g.12416_12430dup , LRG_246:g.12416_12430dup | |
NG_009225.1:g.1495_1509dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000249501.5:c.971_985dup MANE Select | ENSP00000249501.4:p.Asn328_Arg329insLeuSerArgGluAsn | |
ENST00000249501.4:c.971_985dup | ENSP00000249501.4:p.Asn328_Arg329insLeuSerArgGluAsn | |
ENST00000490088.2:n.795_809dup | ||
ENST00000549469.1:n.842_856dup | ||
NM_002148.3:c.971_985dup , LRG_246t1:c.971_985dup | NP_002139.2:p.Asn328_Arg329insLeuSerArgGluAsn | |
NM_002148.4:c.971_985dup MANE Select | NP_002139.2:p.Asn328_Arg329insLeuSerArgGluAsn |