Canonical Allele Identifier: CA2578273302

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741758-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741762del , CM000667.2:g.14741762del	GRCh38
NC_000005.9:g.14741871del , CM000667.1:g.14741871del	GRCh37
NC_000005.8:g.14794871del	NCBI36
NG_008273.1:g.135020del
NG_008273.2:g.135027del

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+68del MANE Select	ENSP00000284268.6:n.1011+68del
ENST00000284268.6:c.1011+68del	ENSP00000284268.6:n.1011+68del
ENST00000503939.5:n.523+68del
ENST00000515517.1:n.313del
NM_054027.4:c.1011+68del	NP_473368.1:n.1011+68del
XM_011514067.1:c.1011+68del	XP_011512369.1:n.1011+68del
NM_054027.5:c.1011+68del	NP_473368.1:n.1011+68del
XM_017009644.2:c.927+68del	XP_016865133.1:n.927+68del
NM_054027.6:c.1011+68del MANE Select	NP_473368.1:n.1011+68del