Canonical Allele Identifier: CA2473783782

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509034_45509039delinsTCTCCA , CM000663.2:g.45509034_45509039delinsTCTCCA	GRCh38
NC_000001.10:g.45974706_45974711delinsTCTCCA , CM000663.1:g.45974706_45974711delinsTCTCCA	GRCh37
NC_000001.9:g.45747293_45747298delinsTCTCCA	NCBI36
NG_013378.1:g.13851_13856delinsTCTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.668_673delinsTCTCCA MANE Select	ENSP00000383840.4:p.Phe223=
ENST00000401061.8:c.668_673delinsTCTCCA	ENSP00000383840.4:p.Phe223=
ENST00000616135.1:c.497_502delinsTCTCCA	ENSP00000478859.1:p.Phe166=
NM_015506.2:c.668_673delinsTCTCCA	NP_056321.2:p.Phe223=
XM_005270724.3:c.473_478delinsTCTCCA	XP_005270781.1:p.Phe158=
XM_011541204.1:c.497_502delinsTCTCCA	XP_011539506.1:p.Phe166=
NM_001330540.1:c.497_502delinsTCTCCA	NP_001317469.1:p.Phe166=
XM_005270724.5:c.473_478delinsTCTCCA	XP_005270781.1:p.Phe158=
NM_015506.3:c.668_673delinsTCTCCA MANE Select	NP_056321.2:p.Phe223=
NM_001330540.2:c.497_502delinsTCTCCA	NP_001317469.1:p.Phe166=