Canonical Allele Identifier: CA522558512

Gene: MMACHC

Linked Data

• dbSNP Id: rs1159171538
• gnomAD v2: 1-45966242-AGGTAGT-A
• MyVariant Identifiers: chr1:g.45966243_45966248del (hg19) ; chr1:g.45500571_45500576del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500574_45500579del , CM000663.2:g.45500574_45500579del	GRCh38
NC_000001.10:g.45966246_45966251del , CM000663.1:g.45966246_45966251del	GRCh37
NC_000001.9:g.45738833_45738838del	NCBI36
NG_013378.1:g.5391_5396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+161_81+166del MANE Select	ENSP00000383840.4:n.81+161_81+166del
ENST00000401061.8:c.81+161_81+166del	ENSP00000383840.4:n.81+161_81+166del
ENST00000616135.1:c.-91+161_-91+166del	ENSP00000478859.1:n.-91+161_-91+166del
NM_015506.2:c.81+161_81+166del	NP_056321.2:n.81+161_81+166del
XM_005270724.3:c.81+161_81+166del	XP_005270781.1:n.81+161_81+166del
XM_011541204.1:c.-142+161_-142+166del	XP_011539506.1:n.-142+161_-142+166del
NM_001330540.1:c.-142+161_-142+166del	NP_001317469.1:n.-142+161_-142+166del
XM_005270724.5:c.81+161_81+166del	XP_005270781.1:n.81+161_81+166del
NM_015506.3:c.81+161_81+166del MANE Select	NP_056321.2:n.81+161_81+166del
NM_001330540.2:c.-142+161_-142+166del	NP_001317469.1:n.-142+161_-142+166del