Canonical Allele Identifier: CA2473783294

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508086_45508091delinsAAGGTC , CM000663.2:g.45508086_45508091delinsAAGGTC	GRCh38
NC_000001.10:g.45973758_45973763delinsAAGGTC , CM000663.1:g.45973758_45973763delinsAAGGTC	GRCh37
NC_000001.9:g.45746345_45746350delinsAAGGTC	NCBI36
NG_013378.1:g.12903_12908delinsAAGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-126_277-121delinsAAGGTC MANE Select	ENSP00000383840.4:n.277-126_277-121delinsAAGGTC
ENST00000401061.8:c.277-126_277-121delinsAAGGTC	ENSP00000383840.4:n.277-126_277-121delinsAAGGTC
ENST00000616135.1:c.106-126_106-121delinsAAGGTC	ENSP00000478859.1:n.106-126_106-121delinsAAGGTC
NM_015506.2:c.277-126_277-121delinsAAGGTC	NP_056321.2:n.277-126_277-121delinsAAGGTC
XM_005270724.3:c.82-126_82-121delinsAAGGTC	XP_005270781.1:n.82-126_82-121delinsAAGGTC
XM_011541204.1:c.106-126_106-121delinsAAGGTC	XP_011539506.1:n.106-126_106-121delinsAAGGTC
NM_001330540.1:c.106-126_106-121delinsAAGGTC	NP_001317469.1:n.106-126_106-121delinsAAGGTC
XM_005270724.5:c.82-126_82-121delinsAAGGTC	XP_005270781.1:n.82-126_82-121delinsAAGGTC
NM_015506.3:c.277-126_277-121delinsAAGGTC MANE Select	NP_056321.2:n.277-126_277-121delinsAAGGTC
NM_001330540.2:c.106-126_106-121delinsAAGGTC	NP_001317469.1:n.106-126_106-121delinsAAGGTC