Canonical Allele Identifier: CA2770993578
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459062_49459063del , CM000668.2:g.49459062_49459063del GRCh38
NC_000006.11:g.49426775_49426776del , CM000668.1:g.49426775_49426776del GRCh37
NC_000006.10:g.49534734_49534735del NCBI36
NG_007100.1:g.9078_9079del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+20_385+21del MANE Select ENSP00000274813.3:n.385+20_385+21del
ENST00000274813.3:c.385+20_385+21del ENSP00000274813.3:n.385+20_385+21del
NM_000255.3:c.385+20_385+21del NP_000246.2:n.385+20_385+21del
XM_005249143.2:c.385+20_385+21del XP_005249200.1:n.385+20_385+21del
XM_005249143.3:c.385+20_385+21del XP_005249200.1:n.385+20_385+21del
NM_000255.4:c.385+20_385+21del MANE Select NP_000246.2:n.385+20_385+21del