Canonical Allele Identifier: CA312788

Gene: MMUT

Linked Data

• ClinVar Variation Id: 203861
• ClinVar RCV Id: RCV000186062 ; RCV001827993
• dbSNP Id: rs796052009
• gnomAD v2: 6-49426805-G-GTCC
• gnomAD v3: 6-49459092-G-GTCC
• gnomAD v4: 6-49459092-G-GTCC
• MyVariant Identifiers: chr6:g.49426806_49426808dupTCC (hg19) ; chr6:g.49426808_49426809insTCC (hg19) ; chr6:g.49426805_49426806insTCC (hg19) ; chr6:g.49459093_49459095dupTCC (hg38) ; chr6:g.49459092_49459093insTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459094_49459096dup , CM000668.2:g.49459094_49459096dup	GRCh38
NC_000006.11:g.49426807_49426809dup , CM000668.1:g.49426807_49426809dup	GRCh37
NC_000006.10:g.49534766_49534768dup	NCBI36
NG_007100.1:g.9045_9047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.372_374dup MANE Select	ENSP00000274813.3:p.Lys124_Asp125insGlu
ENST00000274813.3:c.372_374dup	ENSP00000274813.3:p.Lys124_Asp125insGlu
NM_000255.3:c.372_374dup	NP_000246.2:p.Lys124_Asp125insGlu
XM_005249143.2:c.372_374dup	XP_005249200.1:p.Lys124_Asp125insGlu
XM_005249143.3:c.372_374dup	XP_005249200.1:p.Lys124_Asp125insGlu
NM_000255.4:c.372_374dup MANE Select	NP_000246.2:p.Lys124_Asp125insGlu