HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232546308_232546311del , CM000664.2:g.232546308_232546311del | GRCh38 |
NC_000002.11:g.233411018_233411021del , CM000664.1:g.233411018_233411021del | GRCh37 |
NC_000002.10:g.233119262_233119265del | NCBI36 |
NG_012954.1:g.11582_11585del | |
NG_012954.2:g.11617_11620del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000408957.7:c.*1797_*1800del (TIGD1) MANE Select | ENSP00000386186.3:n.*1797_*1800del | |
ENST00000651502.1:c.*592_*595del (CHRNG) MANE Select | ENSP00000498757.1:n.*592_*595del | |
ENST00000389494.7:c.*592_*595del (CHRNG) | ENSP00000374145.3:n.*592_*595del | |
NM_005199.4:c.*592_*595del (CHRNG) | NP_005190.4:n.*592_*595del | |
NM_005199.5:c.*592_*595del (CHRNG) MANE Select | NP_005190.4:n.*592_*595del | |
NM_145702.4:c.*1797_*1800del (TIGD1) MANE Select | NP_663748.1:n.*1797_*1800del |