Canonical Allele Identifier: CA2673311301

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741751-CCCCCTTTAAAATAGCAACTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741760_14741780del , CM000667.2:g.14741760_14741780del	GRCh38
NC_000005.9:g.14741869_14741889del , CM000667.1:g.14741869_14741889del	GRCh37
NC_000005.8:g.14794869_14794889del	NCBI36
NG_008273.1:g.135007_135027del
NG_008273.2:g.135014_135034del

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+55_1011+75del MANE Select	ENSP00000284268.6:n.1011+55_1011+75del
ENST00000284268.6:c.1011+55_1011+75del	ENSP00000284268.6:n.1011+55_1011+75del
ENST00000503939.5:n.523+55_523+75del
ENST00000515517.1:n.300_320del
NM_054027.4:c.1011+55_1011+75del	NP_473368.1:n.1011+55_1011+75del
XM_011514067.1:c.1011+55_1011+75del	XP_011512369.1:n.1011+55_1011+75del
NM_054027.5:c.1011+55_1011+75del	NP_473368.1:n.1011+55_1011+75del
XM_017009644.2:c.927+55_927+75del	XP_016865133.1:n.927+55_927+75del
NM_054027.6:c.1011+55_1011+75del MANE Select	NP_473368.1:n.1011+55_1011+75del