Canonical Allele Identifier: CA289208636
Gene: ANKRD13B HGNC NCBI
GIT1 HGNC NCBI

Linked Data

dbSNP Id: rs1018861618
gnomAD v2: 17-27917714-CTTG-C
gnomAD v3: 17-29590696-CTTG-C
gnomAD v4: 17-29590696-CTTG-C
MyVariant Identifiers: chr17:g.27917715_27917717del (hg19) chr17:g.29590697_29590699del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29590699_29590701del , CM000679.2:g.29590699_29590701del GRCh38
NC_000017.10:g.27917717_27917719del , CM000679.1:g.27917717_27917719del GRCh37
NC_000017.9:g.24941843_24941845del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000487527.5:n.80+837_80+839del (ANKRD13B)
ENST00000583413.4:c.88+3243_88+3245del (GIT1) ENSP00000466824.1:n.88+3243_88+3245del
ENST00000583728.5:c.-283+837_-283+839del (ANKRD13B) ENSP00000467078.1:n.-283+837_-283+839del
XM_017024174.2:c.-283+837_-283+839del (ANKRD13B) XP_016879663.1:n.-283+837_-283+839del
Search 100 bp 5'
Search 100 bp 3'