Canonical Allele Identifier: CA2473783444

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508412_45508416delinsTCTCC , CM000663.2:g.45508412_45508416delinsTCTCC	GRCh38
NC_000001.10:g.45974084_45974088delinsTCTCC , CM000663.1:g.45974084_45974088delinsTCTCC	GRCh37
NC_000001.9:g.45746671_45746675delinsTCTCC	NCBI36
NG_013378.1:g.13229_13233delinsTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+48_429+52delinsTCTCC MANE Select	ENSP00000383840.4:n.429+48_429+52delinsTCTCC
ENST00000401061.8:c.429+48_429+52delinsTCTCC	ENSP00000383840.4:n.429+48_429+52delinsTCTCC
ENST00000616135.1:c.258+48_258+52delinsTCTCC	ENSP00000478859.1:n.258+48_258+52delinsTCTCC
NM_015506.2:c.429+48_429+52delinsTCTCC	NP_056321.2:n.429+48_429+52delinsTCTCC
XM_005270724.3:c.234+48_234+52delinsTCTCC	XP_005270781.1:n.234+48_234+52delinsTCTCC
XM_011541204.1:c.258+48_258+52delinsTCTCC	XP_011539506.1:n.258+48_258+52delinsTCTCC
NM_001330540.1:c.258+48_258+52delinsTCTCC	NP_001317469.1:n.258+48_258+52delinsTCTCC
XM_005270724.5:c.234+48_234+52delinsTCTCC	XP_005270781.1:n.234+48_234+52delinsTCTCC
NM_015506.3:c.429+48_429+52delinsTCTCC MANE Select	NP_056321.2:n.429+48_429+52delinsTCTCC
NM_001330540.2:c.258+48_258+52delinsTCTCC	NP_001317469.1:n.258+48_258+52delinsTCTCC