Canonical Allele Identifier: CA1528892400

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741755_14741756delinsCT , CM000667.2:g.14741755_14741756delinsCT	GRCh38
NC_000005.9:g.14741864_14741865delinsCT , CM000667.1:g.14741864_14741865delinsCT	GRCh37
NC_000005.8:g.14794864_14794865delinsCT	NCBI36
NG_008273.1:g.135023_135024delinsAG
NG_008273.2:g.135030_135031delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+71_1011+72delinsAG MANE Select	ENSP00000284268.6:n.1011+71_1011+72delins...
ENST00000284268.6:c.1011+71_1011+72delinsAG	ENSP00000284268.6:n.1011+71_1011+72delins...
ENST00000503939.5:n.523+71_523+72delinsAG
ENST00000515517.1:n.316_317delinsAG
NM_054027.4:c.1011+71_1011+72delinsAG	NP_473368.1:n.1011+71_1011+72delinsAG
XM_011514067.1:c.1011+71_1011+72delinsAG	XP_011512369.1:n.1011+71_1011+72delinsAG
NM_054027.5:c.1011+71_1011+72delinsAG	NP_473368.1:n.1011+71_1011+72delinsAG
XM_017009644.2:c.927+71_927+72delinsAG	XP_016865133.1:n.927+71_927+72delinsAG
NM_054027.6:c.1011+71_1011+72delinsAG MANE Select	NP_473368.1:n.1011+71_1011+72delinsAG