Canonical Allele Identifier: CA931959426

Gene: AS3MT BORCS7-ASMT

Linked Data

• dbSNP Id: rs1845270828
• gnomAD v3: 10-102901589-GC-G
• gnomAD v4: 10-102901589-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102901591del , CM000672.2:g.102901591del	GRCh38
NC_000010.10:g.104661348del , CM000672.1:g.104661348del	GRCh37
NC_000010.9:g.104651338del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369880.8:c.*891del (AS3MT) MANE Select	ENSP00000358896.3:n.*891del
ENST00000299353.6:c.*2026del (BORCS7-ASMT)	ENSP00000299353.5:n.*2026del
ENST00000369880.7:c.*891del (AS3MT)	ENSP00000358896.3:n.*891del
ENST00000615257.1:c.*326del (AS3MT)	ENSP00000479361.1:n.*326del
NM_020682.3:c.*891del (AS3MT)	NP_065733.2:n.*891del
NR_037644.1:n.2424del (BORCS7-ASMT)
XM_017017027.1:c.447-1080del	XP_016872516.1:n.447-1080del
XR_001747577.1:n.169-1080del
XR_001747578.1:n.345-1080del
NM_020682.4:c.*891del (AS3MT) MANE Select	NP_065733.2:n.*891del
NR_160733.1:n.169-1080del