Canonical Allele Identifier: CA2610730751

Gene: AS3MT BORCS7-ASMT

Linked Data

• gnomAD v4: 10-102900502-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102900504del , CM000672.2:g.102900504del	GRCh38
NC_000010.10:g.104660261del , CM000672.1:g.104660261del	GRCh37
NC_000010.9:g.104650251del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369880.8:c.1021-89del (AS3MT) MANE Select	ENSP00000358896.3:n.1021-89del
ENST00000299353.6:c.*1028-89del (BORCS7-ASMT)	ENSP00000299353.5:n.*1028-89del
ENST00000369880.7:c.1021-89del (AS3MT)	ENSP00000358896.3:n.1021-89del
ENST00000615257.1:c.*3-89del (AS3MT)	ENSP00000479361.1:n.*3-89del
NM_020682.3:c.1021-89del (AS3MT)	NP_065733.2:n.1021-89del
NR_037644.1:n.1426-89del (BORCS7-ASMT)
XM_017017027.1:c.454del	XP_016872516.1:p.Tyr152ThrfsTer23
XR_001747577.1:n.176del
XR_001747578.1:n.352del
NM_020682.4:c.1021-89del (AS3MT) MANE Select	NP_065733.2:n.1021-89del
NR_160733.1:n.176del