Canonical Allele Identifier: CA856574031

Gene:

Linked Data

• dbSNP Id: rs1217012643
• gnomAD v3: 8-88981208-GTAAAGTAGGAATAATCATAGCTCCTTTA-G
• gnomAD v4: 8-88981208-GTAAAGTAGGAATAATCATAGCTCCTTTA-G
• MyVariant Identifiers: chr8:g.89993438_89993465del (hg19) ; chr8:g.88981209_88981236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88981211_88981238del , CM000670.2:g.88981211_88981238del	GRCh38
NC_000008.10:g.89993440_89993467del , CM000670.1:g.89993440_89993467del	GRCh37
NC_000008.9:g.90062556_90062583del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956667.1:n.179-99175_179-99148del