Canonical Allele Identifier: CA2679047132

Gene: MMUT

Linked Data

• gnomAD v4: 6-49458165-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458169del , CM000668.2:g.49458169del	GRCh38
NC_000006.11:g.49425882del , CM000668.1:g.49425882del	GRCh37
NC_000006.10:g.49533841del	NCBI36
NG_007100.1:g.9974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.386-108del MANE Select	ENSP00000274813.3:n.386-108del
ENST00000274813.3:c.386-108del	ENSP00000274813.3:n.386-108del
NM_000255.3:c.386-108del	NP_000246.2:n.386-108del
XM_005249143.2:c.386-108del	XP_005249200.1:n.386-108del
XM_005249143.3:c.386-108del	XP_005249200.1:n.386-108del
NM_000255.4:c.386-108del MANE Select	NP_000246.2:n.386-108del