Canonical Allele Identifier: CA1528880729

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716639_14716640delinsTC , CM000667.2:g.14716639_14716640delinsTC	GRCh38
NC_000005.9:g.14716748_14716749delinsTC , CM000667.1:g.14716748_14716749delinsTC	GRCh37
NC_000005.8:g.14769748_14769749delinsTC	NCBI36
NG_008273.1:g.160139_160140delinsGA
NG_008273.2:g.160146_160147delinsGA
NG_051625.1:g.60846_60847delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+66_1141+67delinsGA MANE Select	ENSP00000284268.6:n.1141+66_1141+67delinsGA
ENST00000284268.6:c.1141+66_1141+67delinsGA	ENSP00000284268.6:n.1141+66_1141+67delinsGA
ENST00000502585.1:n.383+66_383+67delinsGA
NM_054027.4:c.1141+66_1141+67delinsGA	NP_473368.1:n.1141+66_1141+67delinsGA
NM_054027.5:c.1141+66_1141+67delinsGA	NP_473368.1:n.1141+66_1141+67delinsGA
XM_017009644.2:c.1057+66_1057+67delinsGA	XP_016865133.1:n.1057+66_1057+67delinsGA
NM_054027.6:c.1141+66_1141+67delinsGA MANE Select	NP_473368.1:n.1141+66_1141+67delinsGA