Canonical Allele Identifier: CA1627396907
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767775504

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459266_49459267del , CM000668.2:g.49459266_49459267del GRCh38
NC_000006.11:g.49426979_49426980del , CM000668.1:g.49426979_49426980del GRCh37
NC_000006.10:g.49534938_49534939del NCBI36
NG_007100.1:g.8876_8877del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.203_204del MANE Select ENSP00000274813.3:p.Ser68TyrfsTer15
ENST00000274813.3:c.203_204del ENSP00000274813.3:p.Ser68TyrfsTer15
NM_000255.3:c.203_204del NP_000246.2:p.Ser68TyrfsTer15
XM_005249143.2:c.203_204del XP_005249200.1:p.Ser68TyrfsTer15
XM_005249143.3:c.203_204del XP_005249200.1:p.Ser68TyrfsTer15
NM_000255.4:c.203_204del MANE Select NP_000246.2:p.Ser68TyrfsTer15