Canonical Allele Identifier: CA1932887282
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900438_102900440delinsGGC , CM000672.2:g.102900438_102900440delinsGGC GRCh38
NC_000010.10:g.104660195_104660197delinsGGC , CM000672.1:g.104660195_104660197delinsGGC GRCh37
NC_000010.9:g.104650185_104650187delinsGGC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-155_1021-153delinsGGC (AS3MT) MANE Select ENSP00000358896.3:n.1021-155_1021-153deli...
ENST00000299353.6:c.*1028-155_*1028-153delinsGGC (BORCS7-ASMT) ENSP00000299353.5:n.*1028-155_*1028-153de...
ENST00000369880.7:c.1021-155_1021-153delinsGGC (AS3MT) ENSP00000358896.3:n.1021-155_1021-153deli...
ENST00000615257.1:c.*3-155_*3-153delinsGGC (AS3MT) ENSP00000479361.1:n.*3-155_*3-153delinsGG...
NM_020682.3:c.1021-155_1021-153delinsGGC (AS3MT) NP_065733.2:n.1021-155_1021-153delinsGGC
NR_037644.1:n.1426-155_1426-153delinsGGC (BORCS7-ASMT)
XM_017017027.1:c.*46_*48delinsGCC XP_016872516.1:n.*46_*48delinsGCC
XR_001747577.1:n.239_241delinsGCC
XR_001747578.1:n.415_417delinsGCC
NM_020682.4:c.1021-155_1021-153delinsGGC (AS3MT) MANE Select NP_065733.2:n.1021-155_1021-153delinsGGC
NR_160733.1:n.239_241delinsGCC
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