Canonical Allele Identifier: CA2765371452

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716933_14716934insCCAAA , CM000667.2:g.14716933_14716934insCCAAA	GRCh38
NC_000005.9:g.14717042_14717043insCCAAA , CM000667.1:g.14717042_14717043insCCAAA	GRCh37
NC_000005.8:g.14770042_14770043insCCAAA	NCBI36
NG_008273.1:g.159846_159847insTTGGT
NG_008273.2:g.159853_159854insTTGGT
NG_051625.1:g.61140_61141insCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-98_1012-97insTTGGT MANE Select	ENSP00000284268.6:n.1012-98_1012-97insTTGGT
ENST00000284268.6:c.1012-98_1012-97insTTGGT	ENSP00000284268.6:n.1012-98_1012-97insTTGGT
ENST00000502585.1:n.156_157insTTGGT
NM_054027.4:c.1012-98_1012-97insTTGGT	NP_473368.1:n.1012-98_1012-97insTTGGT
NM_054027.5:c.1012-98_1012-97insTTGGT	NP_473368.1:n.1012-98_1012-97insTTGGT
XM_017009644.2:c.928-98_928-97insTTGGT	XP_016865133.1:n.928-98_928-97insTTGGT
NM_054027.6:c.1012-98_1012-97insTTGGT MANE Select	NP_473368.1:n.1012-98_1012-97insTTGGT