Canonical Allele Identifier: CA2696092401

Gene: MMACHC

Linked Data

• dbSNP Id: rs2149323461

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508050_45508051insTAA , CM000663.2:g.45508050_45508051insTAA	GRCh38
NC_000001.10:g.45973722_45973723insTAA , CM000663.1:g.45973722_45973723insTAA	GRCh37
NC_000001.9:g.45746309_45746310insTAA	NCBI36
NG_013378.1:g.12867_12868insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-162_277-161insTAA MANE Select	ENSP00000383840.4:n.277-162_277-161insTAA
ENST00000401061.8:c.277-162_277-161insTAA	ENSP00000383840.4:n.277-162_277-161insTAA
ENST00000616135.1:c.106-162_106-161insTAA	ENSP00000478859.1:n.106-162_106-161insTAA
NM_015506.2:c.277-162_277-161insTAA	NP_056321.2:n.277-162_277-161insTAA
XM_005270724.3:c.82-162_82-161insTAA	XP_005270781.1:n.82-162_82-161insTAA
XM_011541204.1:c.106-162_106-161insTAA	XP_011539506.1:n.106-162_106-161insTAA
NM_001330540.1:c.106-162_106-161insTAA	NP_001317469.1:n.106-162_106-161insTAA
XM_005270724.5:c.82-162_82-161insTAA	XP_005270781.1:n.82-162_82-161insTAA
NM_015506.3:c.277-162_277-161insTAA MANE Select	NP_056321.2:n.277-162_277-161insTAA
NM_001330540.2:c.106-162_106-161insTAA	NP_001317469.1:n.106-162_106-161insTAA