Canonical Allele Identifier: CA2835711711
Gene: SHTN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117068160_117068161insCG , CM000672.2:g.117068160_117068161insCG GRCh38
NC_000010.10:g.118827671_118827672insCG , CM000672.1:g.118827671_118827672insCG GRCh37
NC_000010.9:g.118817661_118817662insCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392901.10:c.-188-19650_-188-19649insGC ENSP00000376635.4:n.-188-19650_-188-19649insGC
ENST00000392901.8:c.-188-19650_-188-19649insGC ENSP00000376635.4:n.-188-19650_-188-19649insGC
NM_001258300.1:c.-188-19650_-188-19649insGC NP_001245229.1:n.-188-19650_-188-19649insGC
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