Canonical Allele Identifier: CA2586966646

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508972_45508980del , CM000663.2:g.45508972_45508980del	GRCh38
NC_000001.10:g.45974644_45974652del , CM000663.1:g.45974644_45974652del	GRCh37
NC_000001.9:g.45747231_45747239del	NCBI36
NG_013378.1:g.13789_13797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.606_614del MANE Select	ENSP00000383840.4:p.Trp203_Tyr205del
ENST00000401061.8:c.606_614del	ENSP00000383840.4:p.Trp203_Tyr205del
ENST00000616135.1:c.435_443del	ENSP00000478859.1:p.Trp146_Tyr148del
NM_015506.2:c.606_614del	NP_056321.2:p.Trp203_Tyr205del
XM_005270724.3:c.411_419del	XP_005270781.1:p.Trp138_Tyr140del
XM_011541204.1:c.435_443del	XP_011539506.1:p.Trp146_Tyr148del
NM_001330540.1:c.435_443del	NP_001317469.1:p.Trp146_Tyr148del
XM_005270724.5:c.411_419del	XP_005270781.1:p.Trp138_Tyr140del
NM_015506.3:c.606_614del MANE Select	NP_056321.2:p.Trp203_Tyr205del
NM_001330540.2:c.435_443del	NP_001317469.1:p.Trp146_Tyr148del