Canonical Allele Identifier: CA2586966630

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2733897
• ClinVar RCV Id: RCV003494629
• gnomAD v4: 1-45507392-CACCTACCGCTGCCAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507400_45507415del , CM000663.2:g.45507400_45507415del	GRCh38
NC_000001.10:g.45973072_45973087del , CM000663.1:g.45973072_45973087del	GRCh37
NC_000001.9:g.45745659_45745674del	NCBI36
NG_013378.1:g.12217_12232del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.126_141del MANE Select	ENSP00000383840.4:p.Leu43TrpfsTer28
ENST00000401061.8:c.126_141del	ENSP00000383840.4:p.Leu43TrpfsTer28
ENST00000616135.1:c.-46_-31del	ENSP00000478859.1:n.-46_-31del
NM_015506.2:c.126_141del	NP_056321.2:p.Leu43TrpfsTer28
XM_005270724.3:c.82-812_82-797del	XP_005270781.1:n.82-812_82-797del
XM_011541204.1:c.-46_-31del	XP_011539506.1:n.-46_-31del
NM_001330540.1:c.-46_-31del	NP_001317469.1:n.-46_-31del
XM_005270724.5:c.82-812_82-797del	XP_005270781.1:n.82-812_82-797del
NM_015506.3:c.126_141del MANE Select	NP_056321.2:p.Leu43TrpfsTer28
NM_001330540.2:c.-46_-31del	NP_001317469.1:n.-46_-31del