Canonical Allele Identifier: CA837538707

Gene:

Linked Data

• dbSNP Id: rs1177422049
• gnomAD v3: 7-30897490-G-GCCCCT
• gnomAD v4: 7-30897490-G-GCCCCT
• MyVariant Identifiers: chr7:g.30937105_30937106insCCCCT (hg19) ; chr7:g.30897490_30897491insCCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897505_30897509dup , CM000669.2:g.30897505_30897509dup	GRCh38
NC_000007.13:g.30937120_30937124dup , CM000669.1:g.30937120_30937124dup	GRCh37
NC_000007.12:g.30903645_30903649dup	NCBI36
NG_007475.2:g.49112_49116dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-14488_622-14484dup