Canonical Allele Identifier: CA2473783352

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508242_45508246delinsGCTGA , CM000663.2:g.45508242_45508246delinsGCTGA	GRCh38
NC_000001.10:g.45973914_45973918delinsGCTGA , CM000663.1:g.45973914_45973918delinsGCTGA	GRCh37
NC_000001.9:g.45746501_45746505delinsGCTGA	NCBI36
NG_013378.1:g.13059_13063delinsGCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.307_311delinsGCTGA MANE Select	ENSP00000383840.4:p.Ala103=
ENST00000401061.8:c.307_311delinsGCTGA	ENSP00000383840.4:p.Ala103=
ENST00000616135.1:c.136_140delinsGCTGA	ENSP00000478859.1:p.Ala46=
NM_015506.2:c.307_311delinsGCTGA	NP_056321.2:p.Ala103=
XM_005270724.3:c.112_116delinsGCTGA	XP_005270781.1:p.Ala38=
XM_011541204.1:c.136_140delinsGCTGA	XP_011539506.1:p.Ala46=
NM_001330540.1:c.136_140delinsGCTGA	NP_001317469.1:p.Ala46=
XM_005270724.5:c.112_116delinsGCTGA	XP_005270781.1:p.Ala38=
NM_015506.3:c.307_311delinsGCTGA MANE Select	NP_056321.2:p.Ala103=
NM_001330540.2:c.136_140delinsGCTGA	NP_001317469.1:p.Ala46=