Canonical Allele Identifier: CA2543980777

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716916_14716917insGTTTGATG , CM000667.2:g.14716916_14716917insGTTTGATG	GRCh38
NC_000005.9:g.14717025_14717026insGTTTGATG , CM000667.1:g.14717025_14717026insGTTTGATG	GRCh37
NC_000005.8:g.14770025_14770026insGTTTGATG	NCBI36
NG_008273.1:g.159862_159863insCATCAAAC
NG_008273.2:g.159869_159870insCATCAAAC
NG_051625.1:g.61123_61124insGTTTGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-82_1012-81insCATCAAAC MANE Select	ENSP00000284268.6:n.1012-82_1012-81insCATCAAAC
ENST00000284268.6:c.1012-82_1012-81insCATCAAAC	ENSP00000284268.6:n.1012-82_1012-81insCATCAAAC
ENST00000502585.1:n.172_173insCATCAAAC
NM_054027.4:c.1012-82_1012-81insCATCAAAC	NP_473368.1:n.1012-82_1012-81insCATCAAAC
NM_054027.5:c.1012-82_1012-81insCATCAAAC	NP_473368.1:n.1012-82_1012-81insCATCAAAC
XM_017009644.2:c.928-82_928-81insCATCAAAC	XP_016865133.1:n.928-82_928-81insCATCAAAC
NM_054027.6:c.1012-82_1012-81insCATCAAAC MANE Select	NP_473368.1:n.1012-82_1012-81insCATCAAAC