Canonical Allele Identifier: CA2679046386
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447654_49447655del , CM000668.2:g.49447654_49447655del GRCh38
NC_000006.11:g.49415367_49415368del , CM000668.1:g.49415367_49415368del GRCh37
NC_000006.10:g.49523326_49523327del NCBI36
NG_007100.1:g.20485_20486del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+15_1560+16del MANE Select ENSP00000274813.3:n.1560+15_1560+16del
ENST00000274813.3:c.1560+15_1560+16del ENSP00000274813.3:n.1560+15_1560+16del
NM_000255.3:c.1560+15_1560+16del NP_000246.2:n.1560+15_1560+16del
XM_005249143.2:c.1560+15_1560+16del XP_005249200.1:n.1560+15_1560+16del
XM_005249143.3:c.1560+15_1560+16del XP_005249200.1:n.1560+15_1560+16del
NM_000255.4:c.1560+15_1560+16del MANE Select NP_000246.2:n.1560+15_1560+16del