Canonical Allele Identifier: CA364397066
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1554159446
gnomAD v3: 6-49447653-A-AAT
gnomAD v4: 6-49447653-A-AAT
MyVariant Identifiers: chr6:g.49415366_49415367insAT (hg19) chr6:g.49447653_49447654insAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447654_49447655insTA , CM000668.2:g.49447654_49447655insTA GRCh38
NC_000006.11:g.49415367_49415368insTA , CM000668.1:g.49415367_49415368insTA GRCh37
NC_000006.10:g.49523326_49523327insTA NCBI36
NG_007100.1:g.20486_20487insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+16_1560+17insAT MANE Select ENSP00000274813.3:n.1560+16_1560+17insAT
ENST00000274813.3:c.1560+16_1560+17insAT ENSP00000274813.3:n.1560+16_1560+17insAT
NM_000255.3:c.1560+16_1560+17insAT NP_000246.2:n.1560+16_1560+17insAT
XM_005249143.2:c.1560+16_1560+17insAT XP_005249200.1:n.1560+16_1560+17insAT
XM_005249143.3:c.1560+16_1560+17insAT XP_005249200.1:n.1560+16_1560+17insAT
NM_000255.4:c.1560+16_1560+17insAT MANE Select NP_000246.2:n.1560+16_1560+17insAT
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