Canonical Allele Identifier: CA1077861104

Gene: BHMT DMGDH

Linked Data

• gnomAD v3: 5-79126747-A-ACAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT
• gnomAD v4: 5-79126747-A-ACAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79126747_79126748insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT , CM000667.2:g.79126747_79126748insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT	GRCh38
NC_000005.9:g.78422570_78422571insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT , CM000667.1:g.78422570_78422571insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT	GRCh37
NC_000005.8:g.78458326_78458327insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT	NCBI36
NG_029156.1:g.19967_19968insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.808+519_808+520insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT (BHMT) MANE Select	ENSP00000274353.5:n.808+519_808+520insCAA...
ENST00000274353.9:c.808+519_808+520insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT (BHMT)	ENSP00000274353.5:n.808+519_808+520insCAA...
ENST00000518707.1:n.129-5396_129-5395insAATACAGTCACTCGATGATGGTATCTTGCCATCATTAAAACTTG (DMGDH)
ENST00000520388.5:n.229-5396_229-5395insAATACAGTCACTCGATGATGGTATCTTGCCATCATTAAAACTTG (DMGDH)
ENST00000521279.1:n.268+519_268+520insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT (BHMT)
ENST00000524080.1:c.349+519_349+520insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT (BHMT)	ENSP00000428240.1:n.349+519_349+520insCAA...
NM_001713.2:c.808+519_808+520insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT (BHMT)	NP_001704.2:n.808+519_808+520insCAAGTTTTA...
NM_001713.3:c.808+519_808+520insCAAGTTTTAATGATGGCAAGATACCATCATCGAGTGACTGTATT (BHMT) MANE Select	NP_001704.2:n.808+519_808+520insCAAGTTTTA...