Canonical Allele Identifier: CA16618295

Gene: MMUT

Linked Data

• ClinVar Variation Id: 419283
• ClinVar RCV Id: RCV000478569 ; RCV000668157
• dbSNP Id: rs1064793768
• gnomAD v4: 6-49459154-AG-A
• MyVariant Identifiers: chr6:g.49426868del (hg19) ; chr6:g.49459155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459157del , CM000668.2:g.49459157del	GRCh38
NC_000006.11:g.49426870del , CM000668.1:g.49426870del	GRCh37
NC_000006.10:g.49534829del	NCBI36
NG_007100.1:g.8985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.312del MANE Select	ENSP00000274813.3:p.Trp105GlyfsTer?
ENST00000274813.3:c.312del	ENSP00000274813.3:p.Trp105GlyfsTer?
NM_000255.3:c.312del	NP_000246.2:p.Trp105GlyfsTer?
XM_005249143.2:c.312del	XP_005249200.1:p.Trp105GlyfsTer?
XM_005249143.3:c.312del	XP_005249200.1:p.Trp105GlyfsTer?
NM_000255.4:c.312del MANE Select	NP_000246.2:p.Trp105GlyfsTer?