Canonical Allele Identifier: CA522810971

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2676629
• ClinVar RCV Id: RCV003461866
• dbSNP Id: rs1338125377
• gnomAD v2: 1-45974706-TCTCCA-T
• gnomAD v4: 1-45509034-TCTCCA-T
• MyVariant Identifiers: chr1:g.45974707_45974711del (hg19) ; chr1:g.45509035_45509039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509041_45509045del , CM000663.2:g.45509041_45509045del	GRCh38
NC_000001.10:g.45974713_45974717del , CM000663.1:g.45974713_45974717del	GRCh37
NC_000001.9:g.45747300_45747304del	NCBI36
NG_013378.1:g.13858_13862del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.675_679del MANE Select	ENSP00000383840.4:p.Pro226CysfsTer17
ENST00000401061.8:c.675_679del	ENSP00000383840.4:p.Pro226CysfsTer17
ENST00000616135.1:c.504_508del	ENSP00000478859.1:p.Pro169CysfsTer17
NM_015506.2:c.675_679del	NP_056321.2:p.Pro226CysfsTer17
XM_005270724.3:c.480_484del	XP_005270781.1:p.Pro161CysfsTer17
XM_011541204.1:c.504_508del	XP_011539506.1:p.Pro169CysfsTer17
NM_001330540.1:c.504_508del	NP_001317469.1:p.Pro169CysfsTer17
XM_005270724.5:c.480_484del	XP_005270781.1:p.Pro161CysfsTer17
NM_015506.3:c.675_679del MANE Select	NP_056321.2:p.Pro226CysfsTer17
NM_001330540.2:c.504_508del	NP_001317469.1:p.Pro169CysfsTer17