Canonical Allele Identifier: CA2645391010

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508684-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508687_45508689del , CM000663.2:g.45508687_45508689del	GRCh38
NC_000001.10:g.45974359_45974361del , CM000663.1:g.45974359_45974361del	GRCh37
NC_000001.9:g.45746946_45746948del	NCBI36
NG_013378.1:g.13504_13506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-109_430-107del MANE Select	ENSP00000383840.4:n.430-109_430-107del
ENST00000401061.8:c.430-109_430-107del	ENSP00000383840.4:n.430-109_430-107del
ENST00000616135.1:c.259-109_259-107del	ENSP00000478859.1:n.259-109_259-107del
NM_015506.2:c.430-109_430-107del	NP_056321.2:n.430-109_430-107del
XM_005270724.3:c.235-109_235-107del	XP_005270781.1:n.235-109_235-107del
XM_011541204.1:c.259-109_259-107del	XP_011539506.1:n.259-109_259-107del
NM_001330540.1:c.259-109_259-107del	NP_001317469.1:n.259-109_259-107del
XM_005270724.5:c.235-109_235-107del	XP_005270781.1:n.235-109_235-107del
NM_015506.3:c.430-109_430-107del MANE Select	NP_056321.2:n.430-109_430-107del
NM_001330540.2:c.259-109_259-107del	NP_001317469.1:n.259-109_259-107del