Canonical Allele Identifier: CA573373485

Gene:

Linked Data

• dbSNP Id: rs1414854797
• gnomAD v2: 7-24322977-T-TA
• gnomAD v3: 7-24283358-T-TA
• gnomAD v4: 7-24283358-T-TA
• MyVariant Identifiers: chr7:g.24322977_24322978insA (hg19) ; chr7:g.24283358_24283359insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283358_24283359insA , CM000669.2:g.24283358_24283359insA	GRCh38
NC_000007.13:g.24322977_24322978insA , CM000669.1:g.24322977_24322978insA	GRCh37
NC_000007.12:g.24289502_24289503insA	NCBI36
NG_016148.1:g.4171_4172insA

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27660_42-27659insT	XP_016868399.1:n.42-27660_42-27659insT
XM_017012911.1:c.42-27660_42-27659insT	XP_016868400.1:n.42-27660_42-27659insT
XR_001745121.1:n.473+35998_473+35999insT
XR_001745122.1:n.345-86330_345-86329insT
XR_001745123.1:n.473+35998_473+35999insT
XR_001745124.1:n.473+35998_473+35999insT
XR_001745125.1:n.473+35998_473+35999insT
XR_001745126.1:n.473+35998_473+35999insT
XR_001745127.1:n.345-27660_345-27659insT
XR_001745129.1:n.473+35998_473+35999insT
XR_001745130.1:n.473+35998_473+35999insT
XR_001745131.1:n.473+35998_473+35999insT
XR_001745132.1:n.473+35998_473+35999insT