Canonical Allele Identifier: CA168905089
Gene:

Linked Data

dbSNP Id: rs567458456
gnomAD v2: 7-148504265-T-TGTC
gnomAD v3: 7-148807173-T-TGTC
gnomAD v4: 7-148807173-T-TGTC
MyVariant Identifiers: chr7:g.148504265_148504266insGTC (hg19) chr7:g.148807173_148807174insGTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807174_148807176dup , CM000669.2:g.148807174_148807176dup GRCh38
NC_000007.13:g.148504266_148504268dup , CM000669.1:g.148504266_148504268dup GRCh37
NC_000007.12:g.148135199_148135201dup NCBI36
NG_032043.1:g.82174_82176dup , LRG_531:g.82174_82176dup

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2089_515+2091dup
XR_928102.1:n.722+2089_722+2091dup
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Search 100 bp 3'