Canonical Allele Identifier: CA1932887178
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900202_102900203delinsTC , CM000672.2:g.102900202_102900203delinsTC GRCh38
NC_000010.10:g.104659959_104659960delinsTC , CM000672.1:g.104659959_104659960delinsTC GRCh37
NC_000010.9:g.104649949_104649950delinsTC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-391_1021-390delinsTC (AS3MT) MANE Select ENSP00000358896.3:n.1021-391_1021-390deli...
ENST00000299353.6:c.*1028-391_*1028-390delinsTC (BORCS7-ASMT) ENSP00000299353.5:n.*1028-391_*1028-390de...
ENST00000369880.7:c.1021-391_1021-390delinsTC (AS3MT) ENSP00000358896.3:n.1021-391_1021-390deli...
ENST00000615257.1:c.*3-391_*3-390delinsTC (AS3MT) ENSP00000479361.1:n.*3-391_*3-390delinsTC...
NM_020682.3:c.1021-391_1021-390delinsTC (AS3MT) NP_065733.2:n.1021-391_1021-390delinsTC
NR_037644.1:n.1426-391_1426-390delinsTC (BORCS7-ASMT)
XM_017017027.1:c.*92+191_*92+192delinsGA XP_016872516.1:n.*92+191_*92+192delinsGA
XR_001747577.1:n.285+191_285+192delinsGA
XR_001747578.1:n.461+191_461+192delinsGA
NM_020682.4:c.1021-391_1021-390delinsTC (AS3MT) MANE Select NP_065733.2:n.1021-391_1021-390delinsTC
NR_160733.1:n.285+191_285+192delinsGA