Canonical Allele Identifier: CA1627386265
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767358048
gnomAD v4: 6-49444495-TAAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444498_49444500del , CM000668.2:g.49444498_49444500del GRCh38
NC_000006.11:g.49412211_49412213del , CM000668.1:g.49412211_49412213del GRCh37
NC_000006.10:g.49520170_49520172del NCBI36
NG_007100.1:g.23642_23644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1676+141_1676+143del MANE Select ENSP00000274813.3:n.1676+141_1676+143del
ENST00000274813.3:c.1676+141_1676+143del ENSP00000274813.3:n.1676+141_1676+143del
NM_000255.3:c.1676+141_1676+143del NP_000246.2:n.1676+141_1676+143del
XM_005249143.2:c.1676+141_1676+143del XP_005249200.1:n.1676+141_1676+143del
XM_005249143.3:c.1676+141_1676+143del XP_005249200.1:n.1676+141_1676+143del
NM_000255.4:c.1676+141_1676+143del MANE Select NP_000246.2:n.1676+141_1676+143del
Search 100 bp 5'
Search 100 bp 3'