Canonical Allele Identifier: CA3846637
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs748892245
ExAC: 6:49399542 CACCA / C
gnomAD v2: 6-49399542-CACCA-C
gnomAD v4: 6-49431829-CACCA-C
MyVariant Identifiers: chr6:g.49399543_49399546del (hg19) chr6:g.49431830_49431833del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431832_49431835del , CM000668.2:g.49431832_49431835del GRCh38
NC_000006.11:g.49399545_49399548del , CM000668.1:g.49399545_49399548del GRCh37
NC_000006.10:g.49507504_49507507del NCBI36
NG_007100.1:g.36307_36310del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.2148_2151del MANE Select ENSP00000274813.3:p.Gly717PhefsTer?
ENST00000274813.3:c.2148_2151del ENSP00000274813.3:p.Gly717PhefsTer?
NM_000255.3:c.2148_2151del NP_000246.2:p.Gly717PhefsTer?
XM_005249143.2:c.2148_2151del XP_005249200.1:p.Gly717PhefsTer?
XM_005249143.3:c.2148_2151del XP_005249200.1:p.Gly717PhefsTer?
NM_000255.4:c.2148_2151del MANE Select NP_000246.2:p.Gly717PhefsTer?
Search 100 bp 5'
Search 100 bp 3'