Canonical Allele Identifier: CA138795485

Gene: MMUT

Linked Data

• dbSNP Id: rs984846885
• gnomAD v2: 6-49412273-CTTTTA-C
• gnomAD v3: 6-49444560-CTTTTA-C
• gnomAD v4: 6-49444560-CTTTTA-C
• MyVariant Identifiers: chr6:g.49412274_49412278del (hg19) ; chr6:g.49444561_49444565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49444564_49444568del , CM000668.2:g.49444564_49444568del	GRCh38
NC_000006.11:g.49412277_49412281del , CM000668.1:g.49412277_49412281del	GRCh37
NC_000006.10:g.49520236_49520240del	NCBI36
NG_007100.1:g.23575_23579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1676+74_1676+78del MANE Select	ENSP00000274813.3:n.1676+74_1676+78del
ENST00000274813.3:c.1676+74_1676+78del	ENSP00000274813.3:n.1676+74_1676+78del
NM_000255.3:c.1676+74_1676+78del	NP_000246.2:n.1676+74_1676+78del
XM_005249143.2:c.1676+74_1676+78del	XP_005249200.1:n.1676+74_1676+78del
XM_005249143.3:c.1676+74_1676+78del	XP_005249200.1:n.1676+74_1676+78del
NM_000255.4:c.1676+74_1676+78del MANE Select	NP_000246.2:n.1676+74_1676+78del