Canonical Allele Identifier: CA1114433818

Gene: CHD7

Linked Data

• gnomAD v3: 8-60852683-GAATGC-G
• gnomAD v4: 8-60852683-GAATGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852684_60852688del , CM000670.2:g.60852684_60852688del	GRCh38
NC_000008.10:g.61765243_61765247del , CM000670.1:g.61765243_61765247del	GRCh37
NC_000008.9:g.61927797_61927801del	NCBI36
NG_007009.1:g.178905_178909del , LRG_176:g.178905_178909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6081_6085del	ENSP00000512218.1:p.Met2028ArgfsTer5
ENST00000423902.7:c.6081_6085del MANE Select	ENSP00000392028.1:p.Met2028ArgfsTer5
ENST00000423902.6:c.6081_6085del	ENSP00000392028.1:p.Met2028ArgfsTer5
ENST00000524602.5:c.1717-9545_1717-9541del	ENSP00000437061.1:n.1717-9545_1717-9541del
NM_001316690.1:c.1717-9545_1717-9541del	NP_001303619.1:n.1717-9545_1717-9541del
NM_017780.3:c.6081_6085del	NP_060250.2:p.Met2028ArgfsTer5
XM_011517553.1:c.6171_6175del	XP_011515855.1:p.Met2058ArgfsTer5
XM_011517554.1:c.6171_6175del	XP_011515856.1:p.Met2058ArgfsTer5
XM_011517555.1:c.6171_6175del	XP_011515857.1:p.Met2058ArgfsTer5
XM_011517556.1:c.6171_6175del	XP_011515858.1:p.Met2058ArgfsTer5
XM_011517557.1:c.4158_4162del	XP_011515859.1:p.Met1387ArgfsTer5
XM_011517558.1:c.3708_3712del	XP_011515860.1:p.Met1237ArgfsTer5
XM_011517559.1:c.2916_2920del	XP_011515861.1:p.Met973ArgfsTer5
XM_011517553.2:c.6171_6175del	XP_011515855.1:p.Met2058ArgfsTer5
XM_011517554.3:c.6171_6175del	XP_011515856.1:p.Met2058ArgfsTer5
XM_011517555.2:c.6171_6175del	XP_011515857.1:p.Met2058ArgfsTer5
XM_017013612.1:c.6171_6175del	XP_016869101.1:p.Met2058ArgfsTer5
XM_017013613.1:c.6081_6085del	XP_016869102.1:p.Met2028ArgfsTer5
NM_017780.4:c.6081_6085del MANE Select	NP_060250.2:p.Met2028ArgfsTer5