Canonical Allele Identifier: CA837538705

Gene:

Linked Data

• dbSNP Id: rs1177422049
• gnomAD v4: 7-30897490-GCCCCT-G
• MyVariant Identifiers: chr7:g.30937106_30937110del (hg19) ; chr7:g.30897491_30897495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897505_30897509del , CM000669.2:g.30897505_30897509del	GRCh38
NC_000007.13:g.30937120_30937124del , CM000669.1:g.30937120_30937124del	GRCh37
NC_000007.12:g.30903645_30903649del	NCBI36
NG_007475.2:g.49112_49116del

Transcript Alleles

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