Canonical Allele Identifier: CA2673312643

Gene: ANKH

Linked Data

• gnomAD v4: 5-14769061-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769064_14769065del , CM000667.2:g.14769064_14769065del	GRCh38
NC_000005.9:g.14769173_14769174del , CM000667.1:g.14769173_14769174del	GRCh37
NC_000005.8:g.14822173_14822174del	NCBI36
NG_008273.1:g.107716_107717del
NG_008273.2:g.107723_107724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.225_226del MANE Select	ENSP00000284268.6:p.Phe76CysfsTer?
ENST00000646501.1:c.88_89del
ENST00000284268.6:c.225_226del	ENSP00000284268.6:p.Phe76CysfsTer?
ENST00000503389.1:n.231_232del
ENST00000513115.1:n.250_251del
NM_054027.4:c.225_226del	NP_473368.1:p.Phe76CysfsTer?
XM_011514067.1:c.225_226del	XP_011512369.1:p.Phe76CysfsTer?
NM_054027.5:c.225_226del	NP_473368.1:p.Phe76CysfsTer?
XM_017009644.2:c.141_142del	XP_016865133.1:p.Phe48CysfsTer?
NM_054027.6:c.225_226del MANE Select	NP_473368.1:p.Phe76CysfsTer?