Canonical Allele Identifier: CA773963126
Gene:

Linked Data

dbSNP Id: rs1374404395
gnomAD v3: 17-63506341-CTGCACAGCCCTGGGGTTGAT-C
gnomAD v4: 17-63506341-CTGCACAGCCCTGGGGTTGAT-C
MyVariant Identifiers: chr17:g.61583703_61583722del (hg19) chr17:g.63506342_63506361del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506352_63506371del , CM000679.2:g.63506352_63506371del GRCh38
NC_000017.10:g.61583713_61583732del , CM000679.1:g.61583713_61583732del GRCh37
NC_000017.9:g.58937445_58937464del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1970-704_1970-685del ENSP00000464149.1:n.1970-704_1970-685del
Search 100 bp 5'
Search 100 bp 3'