Canonical Allele Identifier: CA2673311207

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741595-GCATTTGAGAAGTCCCAAGAAATGCCTGAAGTGGGTCCTTTATTCCTAGACTCAAGGGCCTCCTTGAATAACAATCGTTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741603_14741682del , CM000667.2:g.14741603_14741682del	GRCh38
NC_000005.9:g.14741712_14741791del , CM000667.1:g.14741712_14741791del	GRCh37
NC_000005.8:g.14794712_14794791del	NCBI36
NG_008273.1:g.135104_135183del
NG_008273.2:g.135111_135190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1011+152_1011+231del MANE Select	ENSP00000284268.6:n.1011+152_1011+231del
ENST00000284268.6:c.1011+152_1011+231del	ENSP00000284268.6:n.1011+152_1011+231del
ENST00000503939.5:n.523+152_524-218del
ENST00000515517.1:n.397_476del
NM_054027.4:c.1011+152_1011+231del	NP_473368.1:n.1011+152_1011+231del
XM_011514067.1:c.1011+152_1012-218del	XP_011512369.1:n.1011+152_1012-218del
NM_054027.5:c.1011+152_1011+231del	NP_473368.1:n.1011+152_1011+231del
XM_017009644.2:c.927+152_927+231del	XP_016865133.1:n.927+152_927+231del
NM_054027.6:c.1011+152_1011+231del MANE Select	NP_473368.1:n.1011+152_1011+231del