Canonical Allele Identifier: CA834982451
Gene:

Linked Data

dbSNP Id: rs1208142536
gnomAD v3: 7-148560895-C-CCT
gnomAD v4: 7-148560895-C-CCT
MyVariant Identifiers: chr7:g.148257987_148257988insCT (hg19) chr7:g.148560895_148560896insCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560904_148560905dup , CM000669.2:g.148560904_148560905dup GRCh38
NC_000007.13:g.148257996_148257997dup , CM000669.1:g.148257996_148257997dup GRCh37
NC_000007.12:g.147888929_147888930dup NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7203_300+7204dup
XR_928100.1:n.433+7203_433+7204dup
Search 100 bp 5'
Search 100 bp 3'