Canonical Allele Identifier: CA134548248

Gene:

Linked Data

• dbSNP Id: rs749797148
• gnomAD v2: 6-8169675-CTAT-C
• gnomAD v3: 6-8169442-CTAT-C
• gnomAD v4: 6-8169442-CTAT-C
• MyVariant Identifiers: chr6:g.8169676_8169678del (hg19) ; chr6:g.8169443_8169445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169452_8169454del , CM000668.2:g.8169452_8169454del	GRCh38
NC_000006.11:g.8169685_8169687del , CM000668.1:g.8169685_8169687del	GRCh37
NC_000006.10:g.8114684_8114686del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11192_82+11194del
XR_926441.1:n.189+1532_189+1534del
XR_926442.1:n.82+11192_82+11194del
XR_926443.1:n.82+11192_82+11194del
XR_001743950.1:n.179+1532_179+1534del
XR_926440.2:n.74+11192_74+11194del
XR_926441.2:n.179+1532_179+1534del
XR_926443.2:n.83+11192_83+11194del