HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88856801_88856960del , CM000678.2:g.88856801_88856960del | GRCh38 |
NC_000016.9:g.88923209_88923368del , CM000678.1:g.88923209_88923368del | GRCh37 |
NC_000016.8:g.87450710_87450869del | NCBI36 |
NG_008667.1:g.5020_5179del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268695.9:c.-70_90del (GALNS) | ||
ENST00000564365.5:c.-398+555_-398+714del (TRAPPC2L) | ENSP00000455447.1:n.-398+555_-398+714del | |
ENST00000568311.1:c.-70_90del (GALNS) | ||
NM_000512.4:c.-70_90del (GALNS) | ||
XM_005256301.2:c.-70_90del (GALNS) | ||
NM_001323543.1:c.-501_-342del (GALNS) | NP_001310472.1:n.-501_-342del | |
NM_001323544.1:c.-222_-63del (GALNS) | NP_001310473.1:n.-222_-63del | |
NR_134671.1:n.27+555_27+714del (TRAPPC2L) | ||
XM_005256301.3:c.-70_90del (GALNS) | ||
NR_134671.2:n.27+555_27+714del (TRAPPC2L) |