Canonical Allele Identifier: CA2473783750

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508980_45508981delinsAC , CM000663.2:g.45508980_45508981delinsAC	GRCh38
NC_000001.10:g.45974652_45974653delinsAC , CM000663.1:g.45974652_45974653delinsAC	GRCh37
NC_000001.9:g.45747239_45747240delinsAC	NCBI36
NG_013378.1:g.13797_13798delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.614_615delinsAC MANE Select	ENSP00000383840.4:p.Tyr205=
ENST00000401061.8:c.614_615delinsAC	ENSP00000383840.4:p.Tyr205=
ENST00000616135.1:c.443_444delinsAC	ENSP00000478859.1:p.Tyr148=
NM_015506.2:c.614_615delinsAC	NP_056321.2:p.Tyr205=
XM_005270724.3:c.419_420delinsAC	XP_005270781.1:p.Tyr140=
XM_011541204.1:c.443_444delinsAC	XP_011539506.1:p.Tyr148=
NM_001330540.1:c.443_444delinsAC	NP_001317469.1:p.Tyr148=
XM_005270724.5:c.419_420delinsAC	XP_005270781.1:p.Tyr140=
NM_015506.3:c.614_615delinsAC MANE Select	NP_056321.2:p.Tyr205=
NM_001330540.2:c.443_444delinsAC	NP_001317469.1:p.Tyr148=