Canonical Allele Identifier: CA2579173692

Gene: CHD7

Linked Data

• gnomAD v4: 8-60848434-ACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848442_60848444del , CM000670.2:g.60848442_60848444del	GRCh38
NC_000008.10:g.61761001_61761003del , CM000670.1:g.61761001_61761003del	GRCh37
NC_000008.9:g.61923555_61923557del	NCBI36
NG_007009.1:g.174663_174665del , LRG_176:g.174663_174665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5211-73_5211-71del	ENSP00000512218.1:n.5211-73_5211-71del
ENST00000423902.7:c.5211-73_5211-71del MANE Select	ENSP00000392028.1:n.5211-73_5211-71del
ENST00000423902.6:c.5211-73_5211-71del	ENSP00000392028.1:n.5211-73_5211-71del
ENST00000524602.5:c.1717-13787_1717-13785del	ENSP00000437061.1:n.1717-13787_1717-13785...
NM_001316690.1:c.1717-13787_1717-13785del	NP_001303619.1:n.1717-13787_1717-13785del...
NM_017780.3:c.5211-73_5211-71del	NP_060250.2:n.5211-73_5211-71del
XM_011517553.1:c.5301-73_5301-71del	XP_011515855.1:n.5301-73_5301-71del
XM_011517554.1:c.5301-73_5301-71del	XP_011515856.1:n.5301-73_5301-71del
XM_011517555.1:c.5301-73_5301-71del	XP_011515857.1:n.5301-73_5301-71del
XM_011517556.1:c.5301-73_5301-71del	XP_011515858.1:n.5301-73_5301-71del
XM_011517557.1:c.3288-73_3288-71del	XP_011515859.1:n.3288-73_3288-71del
XM_011517558.1:c.2838-73_2838-71del	XP_011515860.1:n.2838-73_2838-71del
XM_011517559.1:c.2046-73_2046-71del	XP_011515861.1:n.2046-73_2046-71del
XM_011517553.2:c.5301-73_5301-71del	XP_011515855.1:n.5301-73_5301-71del
XM_011517554.3:c.5301-73_5301-71del	XP_011515856.1:n.5301-73_5301-71del
XM_011517555.2:c.5301-73_5301-71del	XP_011515857.1:n.5301-73_5301-71del
XM_017013612.1:c.5301-73_5301-71del	XP_016869101.1:n.5301-73_5301-71del
XM_017013613.1:c.5211-73_5211-71del	XP_016869102.1:n.5211-73_5211-71del
NM_017780.4:c.5211-73_5211-71del MANE Select	NP_060250.2:n.5211-73_5211-71del