Canonical Allele Identifier: CA573373509

Gene:

Linked Data

• dbSNP Id: rs1301158833
• gnomAD v2: 7-24323360-G-GC
• gnomAD v3: 7-24283741-G-GC
• gnomAD v4: 7-24283741-G-GC
• MyVariant Identifiers: chr7:g.24323360_24323361insC (hg19) ; chr7:g.24283741_24283742insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283745dup , CM000669.2:g.24283745dup	GRCh38
NC_000007.13:g.24323364dup , CM000669.1:g.24323364dup	GRCh37
NC_000007.12:g.24289889dup	NCBI36
NG_016148.1:g.4558dup

Transcript Alleles

HGVS	Amino-acid change
XM_017012910.1:c.42-28043dup	XP_016868399.1:n.42-28043dup
XM_017012911.1:c.42-28043dup	XP_016868400.1:n.42-28043dup
XR_001745121.1:n.473+35615dup
XR_001745122.1:n.345-86713dup
XR_001745123.1:n.473+35615dup
XR_001745124.1:n.473+35615dup
XR_001745125.1:n.473+35615dup
XR_001745126.1:n.473+35615dup
XR_001745127.1:n.345-28043dup
XR_001745129.1:n.473+35615dup
XR_001745130.1:n.473+35615dup
XR_001745131.1:n.473+35615dup
XR_001745132.1:n.473+35615dup