Canonical Allele Identifier: CA2679046387
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49447654-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447654_49447655insT , CM000668.2:g.49447654_49447655insT GRCh38
NC_000006.11:g.49415367_49415368insT , CM000668.1:g.49415367_49415368insT GRCh37
NC_000006.10:g.49523326_49523327insT NCBI36
NG_007100.1:g.20485_20486insA

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+15_1560+16insA MANE Select ENSP00000274813.3:n.1560+15_1560+16insA
ENST00000274813.3:c.1560+15_1560+16insA ENSP00000274813.3:n.1560+15_1560+16insA
NM_000255.3:c.1560+15_1560+16insA NP_000246.2:n.1560+15_1560+16insA
XM_005249143.2:c.1560+15_1560+16insA XP_005249200.1:n.1560+15_1560+16insA
XM_005249143.3:c.1560+15_1560+16insA XP_005249200.1:n.1560+15_1560+16insA
NM_000255.4:c.1560+15_1560+16insA MANE Select NP_000246.2:n.1560+15_1560+16insA
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