Canonical Allele Identifier: CA2765371455

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716936_14716937insTCTACTTCCTTTTTACTGTTTTTGTAATCACTGCACTTTTAAAAACAAGTTGT , CM000667.2:g.14716936_14716937insTCTACTTCCTTTTTACTGTTTTTGTAATCACTGCACTTTTAAAAACAAGTTGT	GRCh38
NC_000005.9:g.14717045_14717046insTCTACTTCCTTTTTACTGTTTTTGTAATCACTGCACTTTTAAAAACAAGTTGT , CM000667.1:g.14717045_14717046insTCTACTTCCTTTTTACTGTTTTTGTAATCACTGCACTTTTAAAAACAAGTTGT	GRCh37
NC_000005.8:g.14770045_14770046insTCTACTTCCTTTTTACTGTTTTTGTAATCACTGCACTTTTAAAAACAAGTTGT	NCBI36
NG_008273.1:g.159842_159843insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA
NG_008273.2:g.159849_159850insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA
NG_051625.1:g.61143_61144insTCTACTTCCTTTTTACTGTTTTTGTAATCACTGCACTTTTAAAAACAAGTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA MANE Select	ENSP00000284268.6:n.1012-102_1012-101insACAACTTGTTTTTAAAAGTGC...
ENST00000284268.6:c.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA	ENSP00000284268.6:n.1012-102_1012-101insACAACTTGTTTTTAAAAGTGC...
ENST00000502585.1:n.152_153insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA
NM_054027.4:c.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA	NP_473368.1:n.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGAT...
NM_054027.5:c.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA	NP_473368.1:n.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGAT...
XM_017009644.2:c.928-102_928-101insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA	XP_016865133.1:n.928-102_928-101insACAACTTGTTTTTAAAAGTGCAGTGA...
NM_054027.6:c.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGATTACAAAAACAGTAAAAAGGAAGTAGA MANE Select	NP_473368.1:n.1012-102_1012-101insACAACTTGTTTTTAAAAGTGCAGTGAT...