Canonical Allele Identifier: CA155828873

Gene:

Linked Data

• dbSNP Id: rs1037373123
• gnomAD v2: 7-24323481-T-TGAAGGAAA
• gnomAD v3: 7-24283862-T-TGAAGGAAA
• gnomAD v4: 7-24283862-T-TGAAGGAAA
• MyVariant Identifiers: chr7:g.24323489_24323490insGAAGGAAA (hg19) ; chr7:g.24323481_24323482insGAAGGAAA (hg19) ; chr7:g.24283870_24283871insGAAGGAAA (hg38) ; chr7:g.24283862_24283863insGAAGGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283880_24283887dup , CM000669.2:g.24283880_24283887dup	GRCh38
NC_000007.13:g.24323499_24323506dup , CM000669.1:g.24323499_24323506dup	GRCh37
NC_000007.12:g.24290024_24290031dup	NCBI36
NG_016148.1:g.4693_4700dup

Transcript Alleles

HGVS	Amino-acid change
XM_017012910.1:c.42-28171_42-28164dup	XP_016868399.1:n.42-28171_42-28164dup
XM_017012911.1:c.42-28171_42-28164dup	XP_016868400.1:n.42-28171_42-28164dup
XR_001745121.1:n.473+35487_473+35494dup
XR_001745122.1:n.345-86841_345-86834dup
XR_001745123.1:n.473+35487_473+35494dup
XR_001745124.1:n.473+35487_473+35494dup
XR_001745125.1:n.473+35487_473+35494dup
XR_001745126.1:n.473+35487_473+35494dup
XR_001745127.1:n.345-28171_345-28164dup
XR_001745129.1:n.473+35487_473+35494dup
XR_001745130.1:n.473+35487_473+35494dup
XR_001745131.1:n.473+35487_473+35494dup
XR_001745132.1:n.473+35487_473+35494dup