Canonical Allele Identifier: CA573461946

Gene:

Linked Data

• dbSNP Id: rs1353647178
• gnomAD v2: 7-30951047-GCCT-G
• gnomAD v3: 7-30911432-GCCT-G
• gnomAD v4: 7-30911432-GCCT-G
• MyVariant Identifiers: chr7:g.30951048_30951050del (hg19) ; chr7:g.30911433_30911435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911435_30911437del , CM000669.2:g.30911435_30911437del	GRCh38
NC_000007.13:g.30951050_30951052del , CM000669.1:g.30951050_30951052del	GRCh37
NC_000007.12:g.30917575_30917577del	NCBI36
NG_007475.2:g.63042_63044del

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-558_622-556del