Canonical Allele Identifier: CA2594213540

Gene:

Linked Data

• gnomAD v3: 7-24283581-GGGGT-G
• gnomAD v4: 7-24283581-GGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283585_24283588del , CM000669.2:g.24283585_24283588del	GRCh38
NC_000007.13:g.24323204_24323207del , CM000669.1:g.24323204_24323207del	GRCh37
NC_000007.12:g.24289729_24289732del	NCBI36
NG_016148.1:g.4398_4401del

Transcript Alleles

HGVS	Amino-acid change
XM_017012910.1:c.42-27886_42-27883del	XP_016868399.1:n.42-27886_42-27883del
XM_017012911.1:c.42-27886_42-27883del	XP_016868400.1:n.42-27886_42-27883del
XR_001745121.1:n.473+35772_473+35775del
XR_001745122.1:n.345-86556_345-86553del
XR_001745123.1:n.473+35772_473+35775del
XR_001745124.1:n.473+35772_473+35775del
XR_001745125.1:n.473+35772_473+35775del
XR_001745126.1:n.473+35772_473+35775del
XR_001745127.1:n.345-27886_345-27883del
XR_001745129.1:n.473+35772_473+35775del
XR_001745130.1:n.473+35772_473+35775del
XR_001745131.1:n.473+35772_473+35775del
XR_001745132.1:n.473+35772_473+35775del