Canonical Allele Identifier: CA573373521

Gene:

Linked Data

• dbSNP Id: rs1037373123
• gnomAD v2: 7-24323481-TGAAGGAAA-T
• gnomAD v3: 7-24283862-TGAAGGAAA-T
• gnomAD v4: 7-24283862-TGAAGGAAA-T
• MyVariant Identifiers: chr7:g.24323482_24323489del (hg19) ; chr7:g.24283863_24283870del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283880_24283887del , CM000669.2:g.24283880_24283887del	GRCh38
NC_000007.13:g.24323499_24323506del , CM000669.1:g.24323499_24323506del	GRCh37
NC_000007.12:g.24290024_24290031del	NCBI36
NG_016148.1:g.4693_4700del

Transcript Alleles

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