Canonical Allele Identifier: CA1528949206

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871568_14871575delinsGGGGCCTC , CM000667.2:g.14871568_14871575delinsGGGGCCTC	GRCh38
NC_000005.9:g.14871677_14871684delinsGGGGCCTC , CM000667.1:g.14871677_14871684delinsGGGGCCTC	GRCh37
NC_000005.8:g.14924677_14924684delinsGGGGCCTC	NCBI36
NG_008273.1:g.5204_5211delinsGAGGCCCC
NG_008273.2:g.5211_5218delinsGAGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-128_-121delinsGAGGCCCC MANE Select	ENSP00000284268.6:n.-128_-121delinsGAGGCCCC
ENST00000284268.6:c.-128_-121delinsGAGGCCCC	ENSP00000284268.6:n.-128_-121delinsGAGGCCCC
ENST00000505140.1:c.-128_-121delinsGAGGCCCC	ENSP00000426332.1:n.-128_-121delinsGAGGCCCC
NM_054027.4:c.-128_-121delinsGAGGCCCC	NP_473368.1:n.-128_-121delinsGAGGCCCC
XM_011514067.1:c.-128_-121delinsGAGGCCCC	XP_011512369.1:n.-128_-121delinsGAGGCCCC
NM_054027.5:c.-128_-121delinsGAGGCCCC	NP_473368.1:n.-128_-121delinsGAGGCCCC
NM_054027.6:c.-128_-121delinsGAGGCCCC MANE Select	NP_473368.1:n.-128_-121delinsGAGGCCCC