Canonical Allele Identifier: CA916166606

Gene: MMACHC

Linked Data

• dbSNP Id: rs1557607753

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508088_45508092del , CM000663.2:g.45508088_45508092del	GRCh38
NC_000001.10:g.45973760_45973764del , CM000663.1:g.45973760_45973764del	GRCh37
NC_000001.9:g.45746347_45746351del	NCBI36
NG_013378.1:g.12905_12909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-124_277-120del MANE Select	ENSP00000383840.4:n.277-124_277-120del
ENST00000401061.8:c.277-124_277-120del	ENSP00000383840.4:n.277-124_277-120del
ENST00000616135.1:c.106-124_106-120del	ENSP00000478859.1:n.106-124_106-120del
NM_015506.2:c.277-124_277-120del	NP_056321.2:n.277-124_277-120del
XM_005270724.3:c.82-124_82-120del	XP_005270781.1:n.82-124_82-120del
XM_011541204.1:c.106-124_106-120del	XP_011539506.1:n.106-124_106-120del
NM_001330540.1:c.106-124_106-120del	NP_001317469.1:n.106-124_106-120del
XM_005270724.5:c.82-124_82-120del	XP_005270781.1:n.82-124_82-120del
NM_015506.3:c.277-124_277-120del MANE Select	NP_056321.2:n.277-124_277-120del
NM_001330540.2:c.106-124_106-120del	NP_001317469.1:n.106-124_106-120del