Canonical Allele Identifier: CA2845535428

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871336_14871337insTGCCC , CM000667.2:g.14871336_14871337insTGCCC	GRCh38
NC_000005.9:g.14871445_14871446insTGCCC , CM000667.1:g.14871445_14871446insTGCCC	GRCh37
NC_000005.8:g.14924445_14924446insTGCCC	NCBI36
NG_008273.1:g.5443_5444insGGCAG
NG_008273.2:g.5450_5451insGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+16_96+17insGGCAG MANE Select	ENSP00000284268.6:n.96+16_96+17insGGCAG
ENST00000284268.6:c.96+16_96+17insGGCAG	ENSP00000284268.6:n.96+16_96+17insGGCAG
ENST00000505140.1:c.112_113insGGCAG	ENSP00000426332.1:p.Ala38GlyfsTer?
ENST00000513115.1:n.121+16_121+17insGGCAG
NM_054027.4:c.96+16_96+17insGGCAG	NP_473368.1:n.96+16_96+17insGGCAG
XM_011514067.1:c.96+16_96+17insGGCAG	XP_011512369.1:n.96+16_96+17insGGCAG
NM_054027.5:c.96+16_96+17insGGCAG	NP_473368.1:n.96+16_96+17insGGCAG
NM_054027.6:c.96+16_96+17insGGCAG MANE Select	NP_473368.1:n.96+16_96+17insGGCAG