Canonical Allele Identifier: CA563326863

Gene: ANKHD1 ANKHD1-EIF4EBP3

Linked Data

• dbSNP Id: rs1315433599
• gnomAD v2: 5-139862376-TTATTA-T
• gnomAD v3: 5-140482791-TTATTA-T
• gnomAD v4: 5-140482791-TTATTA-T
• MyVariant Identifiers: chr5:g.139862377_139862381del (hg19) ; chr5:g.140482792_140482796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140482796_140482800del , CM000667.2:g.140482796_140482800del	GRCh38
NC_000005.9:g.139862381_139862385del , CM000667.1:g.139862381_139862385del	GRCh37
NC_000005.8:g.139842565_139842569del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360839.7:c.1870+129_1870+133del (ANKHD1) MANE Select	ENSP00000354085.2:n.1870+129_1870+133del
ENST00000246149.10:c.354+129_354+133del (ANKHD1)
ENST00000297183.10:c.-2982+129_-2982+133del (ANKHD1)	ENSP00000297183.7:n.-2982+129_-2982+133del
ENST00000360839.6:c.1870+129_1870+133del (ANKHD1)	ENSP00000354085.2:n.1870+129_1870+133del
ENST00000412116.5:c.88+129_88+133del (ANKHD1)	ENSP00000405602.1:n.88+129_88+133del
ENST00000421134.5:c.1927+129_1927+133del (ANKHD1)	ENSP00000394489.1:n.1927+129_1927+133del
ENST00000532219.5:c.1870+129_1870+133del (ANKHD1-EIF4EBP3)	ENSP00000432016.1:n.1870+129_1870+133del
NM_017747.2:c.1870+129_1870+133del (ANKHD1)	NP_060217.1:n.1870+129_1870+133del
NM_020690.5:c.1870+129_1870+133del (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+129_1870+133del
NM_017747.3:c.1870+129_1870+133del (ANKHD1) MANE Select	NP_060217.1:n.1870+129_1870+133del
NM_020690.6:c.1870+129_1870+133del (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+129_1870+133del