Canonical Allele Identifier: CA1586766641

Gene: ANKHD1 ANKHD1-EIF4EBP3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140482769_140482774delinsAGTATT , CM000667.2:g.140482769_140482774delinsAGTATT	GRCh38
NC_000005.9:g.139862354_139862359delinsAGTATT , CM000667.1:g.139862354_139862359delinsAGTATT	GRCh37
NC_000005.8:g.139842538_139842543delinsAGTATT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360839.7:c.1870+102_1870+107delinsAGTATT (ANKHD1) MANE Select	ENSP00000354085.2:n.1870+102_1870+107delinsAGTATT
ENST00000246149.10:c.354+102_354+107delinsAGTATT (ANKHD1)
ENST00000297183.10:c.-2982+102_-2982+107delinsAGTATT (ANKHD1)	ENSP00000297183.7:n.-2982+102_-2982+107delinsAGTATT
ENST00000360839.6:c.1870+102_1870+107delinsAGTATT (ANKHD1)	ENSP00000354085.2:n.1870+102_1870+107delinsAGTATT
ENST00000412116.5:c.88+102_88+107delinsAGTATT (ANKHD1)	ENSP00000405602.1:n.88+102_88+107delinsAGTATT
ENST00000421134.5:c.1927+102_1927+107delinsAGTATT (ANKHD1)	ENSP00000394489.1:n.1927+102_1927+107delinsAGTATT
ENST00000532219.5:c.1870+102_1870+107delinsAGTATT (ANKHD1-EIF4EBP3)	ENSP00000432016.1:n.1870+102_1870+107delinsAGTATT
NM_017747.2:c.1870+102_1870+107delinsAGTATT (ANKHD1)	NP_060217.1:n.1870+102_1870+107delinsAGTATT
NM_020690.5:c.1870+102_1870+107delinsAGTATT (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+102_1870+107delinsAGTATT
NM_017747.3:c.1870+102_1870+107delinsAGTATT (ANKHD1) MANE Select	NP_060217.1:n.1870+102_1870+107delinsAGTATT
NM_020690.6:c.1870+102_1870+107delinsAGTATT (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+102_1870+107delinsAGTATT