Canonical Allele Identifier: CA2770993577
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458982_49458983del , CM000668.2:g.49458982_49458983del GRCh38
NC_000006.11:g.49426695_49426696del , CM000668.1:g.49426695_49426696del GRCh37
NC_000006.10:g.49534654_49534655del NCBI36
NG_007100.1:g.9159_9160del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+101_385+102del MANE Select ENSP00000274813.3:n.385+101_385+102del
ENST00000274813.3:c.385+101_385+102del ENSP00000274813.3:n.385+101_385+102del
NM_000255.3:c.385+101_385+102del NP_000246.2:n.385+101_385+102del
XM_005249143.2:c.385+101_385+102del XP_005249200.1:n.385+101_385+102del
XM_005249143.3:c.385+101_385+102del XP_005249200.1:n.385+101_385+102del
NM_000255.4:c.385+101_385+102del MANE Select NP_000246.2:n.385+101_385+102del