HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475241_134475242del , CM000685.2:g.134475241_134475242del | GRCh38 |
NC_000023.10:g.133609271_133609272del , CM000685.1:g.133609271_133609272del | GRCh37 |
NC_000023.9:g.133436937_133436938del | NCBI36 |
NG_012329.1:g.20097_20098del | |
NG_012329.2:g.20097_20098del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.195_196del MANE Select | ENSP00000298556.7:p.Val67AlafsTer6 | |
ENST00000298556.7:c.195_196del | ENSP00000298556.7:p.Val67AlafsTer6 | |
ENST00000462974.5:n.353_354del | ||
ENST00000475720.1:n.153_154del | ||
NM_000194.2:c.195_196del | NP_000185.1:p.Val67AlafsTer6 | |
XM_011531328.1:c.213_214del | XP_011529630.1:p.Val73AlafsTer6 | |
NM_000194.3:c.195_196del MANE Select | NP_000185.1:p.Val67AlafsTer6 |