Canonical Allele Identifier: CA573461948

Gene:

Linked Data

• dbSNP Id: rs1209522178
• gnomAD v2: 7-30951082-A-AG
• gnomAD v3: 7-30911467-A-AG
• gnomAD v4: 7-30911467-A-AG
• MyVariant Identifiers: chr7:g.30951082_30951083insG (hg19) ; chr7:g.30911467_30911468insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911468dup , CM000669.2:g.30911468dup	GRCh38
NC_000007.13:g.30951083dup , CM000669.1:g.30951083dup	GRCh37
NC_000007.12:g.30917608dup	NCBI36
NG_007475.2:g.63075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.622-525dup