Canonical Allele Identifier: CA2473783268

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508031_45508033delinsCAT , CM000663.2:g.45508031_45508033delinsCAT	GRCh38
NC_000001.10:g.45973703_45973705delinsCAT , CM000663.1:g.45973703_45973705delinsCAT	GRCh37
NC_000001.9:g.45746290_45746292delinsCAT	NCBI36
NG_013378.1:g.12848_12850delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-181_277-179delinsCAT MANE Select	ENSP00000383840.4:n.277-181_277-179delinsCAT
ENST00000401061.8:c.277-181_277-179delinsCAT	ENSP00000383840.4:n.277-181_277-179delinsCAT
ENST00000616135.1:c.106-181_106-179delinsCAT	ENSP00000478859.1:n.106-181_106-179delinsCAT
NM_015506.2:c.277-181_277-179delinsCAT	NP_056321.2:n.277-181_277-179delinsCAT
XM_005270724.3:c.82-181_82-179delinsCAT	XP_005270781.1:n.82-181_82-179delinsCAT
XM_011541204.1:c.106-181_106-179delinsCAT	XP_011539506.1:n.106-181_106-179delinsCAT
NM_001330540.1:c.106-181_106-179delinsCAT	NP_001317469.1:n.106-181_106-179delinsCAT
XM_005270724.5:c.82-181_82-179delinsCAT	XP_005270781.1:n.82-181_82-179delinsCAT
NM_015506.3:c.277-181_277-179delinsCAT MANE Select	NP_056321.2:n.277-181_277-179delinsCAT
NM_001330540.2:c.106-181_106-179delinsCAT	NP_001317469.1:n.106-181_106-179delinsCAT