Canonical Allele Identifier: CA1099423679

Gene:

Linked Data

• dbSNP Id: rs1787182829
• gnomAD v3: 7-24282657-CCT-C
• gnomAD v4: 7-24282657-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24282658_24282659del , CM000669.2:g.24282658_24282659del	GRCh38
NC_000007.13:g.24322277_24322278del , CM000669.1:g.24322277_24322278del	GRCh37
NC_000007.12:g.24288802_24288803del	NCBI36
NG_016148.1:g.3471_3472del

Transcript Alleles

HGVS	Amino-acid change
XM_017012910.1:c.42-26960_42-26959del	XP_016868399.1:n.42-26960_42-26959del
XM_017012911.1:c.42-26960_42-26959del	XP_016868400.1:n.42-26960_42-26959del
XR_001745121.1:n.473+36698_473+36699del
XR_001745122.1:n.345-85630_345-85629del
XR_001745123.1:n.473+36698_473+36699del
XR_001745124.1:n.473+36698_473+36699del
XR_001745125.1:n.473+36698_473+36699del
XR_001745126.1:n.473+36698_473+36699del
XR_001745127.1:n.345-26960_345-26959del
XR_001745129.1:n.473+36698_473+36699del
XR_001745130.1:n.473+36698_473+36699del
XR_001745131.1:n.473+36698_473+36699del
XR_001745132.1:n.473+36698_473+36699del