Canonical Allele Identifier: CA675682426

Gene: THEM7P

Linked Data

• dbSNP Id: rs1339846840
• gnomAD v3: 11-32342771-G-GGA
• gnomAD v4: 11-32342771-G-GGA
• MyVariant Identifiers: chr11:g.32364317_32364318insGA (hg19) ; chr11:g.32342771_32342772insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32342778_32342779dup , CM000673.2:g.32342778_32342779dup	GRCh38
NC_000011.9:g.32364324_32364325dup , CM000673.1:g.32364324_32364325dup	GRCh37
NC_000011.8:g.32320900_32320901dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525689.2:n.122+515_122+516dup
ENST00000525689.1:n.122+515_122+516dup