Canonical Allele Identifier: CA1088813251

Gene: MMUT

Linked Data

• dbSNP Id: rs1767742058
• gnomAD v3: 6-49458139-A-AG
• gnomAD v4: 6-49458139-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458139_49458140insG , CM000668.2:g.49458139_49458140insG	GRCh38
NC_000006.11:g.49425852_49425853insG , CM000668.1:g.49425852_49425853insG	GRCh37
NC_000006.10:g.49533811_49533812insG	NCBI36
NG_007100.1:g.10000_10001insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.386-82_386-81insC MANE Select	ENSP00000274813.3:n.386-82_386-81insC
ENST00000274813.3:c.386-82_386-81insC	ENSP00000274813.3:n.386-82_386-81insC
NM_000255.3:c.386-82_386-81insC	NP_000246.2:n.386-82_386-81insC
XM_005249143.2:c.386-82_386-81insC	XP_005249200.1:n.386-82_386-81insC
XM_005249143.3:c.386-82_386-81insC	XP_005249200.1:n.386-82_386-81insC
NM_000255.4:c.386-82_386-81insC MANE Select	NP_000246.2:n.386-82_386-81insC