Canonical Allele Identifier: CA2473783549

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508616_45508621delinsAAGCCC , CM000663.2:g.45508616_45508621delinsAAGCCC	GRCh38
NC_000001.10:g.45974288_45974293delinsAAGCCC , CM000663.1:g.45974288_45974293delinsAAGCCC	GRCh37
NC_000001.9:g.45746875_45746880delinsAAGCCC	NCBI36
NG_013378.1:g.13433_13438delinsAAGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-180_430-175delinsAAGCCC MANE Select	ENSP00000383840.4:n.430-180_430-175delinsAAGCCC
ENST00000401061.8:c.430-180_430-175delinsAAGCCC	ENSP00000383840.4:n.430-180_430-175delinsAAGCCC
ENST00000616135.1:c.259-180_259-175delinsAAGCCC	ENSP00000478859.1:n.259-180_259-175delinsAAGCCC
NM_015506.2:c.430-180_430-175delinsAAGCCC	NP_056321.2:n.430-180_430-175delinsAAGCCC
XM_005270724.3:c.235-180_235-175delinsAAGCCC	XP_005270781.1:n.235-180_235-175delinsAAGCCC
XM_011541204.1:c.259-180_259-175delinsAAGCCC	XP_011539506.1:n.259-180_259-175delinsAAGCCC
NM_001330540.1:c.259-180_259-175delinsAAGCCC	NP_001317469.1:n.259-180_259-175delinsAAGCCC
XM_005270724.5:c.235-180_235-175delinsAAGCCC	XP_005270781.1:n.235-180_235-175delinsAAGCCC
NM_015506.3:c.430-180_430-175delinsAAGCCC MANE Select	NP_056321.2:n.430-180_430-175delinsAAGCCC
NM_001330540.2:c.259-180_259-175delinsAAGCCC	NP_001317469.1:n.259-180_259-175delinsAAGCCC