Canonical Allele Identifier: CA581980869

Gene: CHD7

Linked Data

• dbSNP Id: rs1401843456
• gnomAD v2: 8-61761286-TGAA-T
• MyVariant Identifiers: chr8:g.61761287_61761289del (hg19) ; chr8:g.60848728_60848730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848728_60848730del , CM000670.2:g.60848728_60848730del	GRCh38
NC_000008.10:g.61761287_61761289del , CM000670.1:g.61761287_61761289del	GRCh37
NC_000008.9:g.61923841_61923843del	NCBI36
NG_007009.1:g.174949_174951del , LRG_176:g.174949_174951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5300+124_5300+126del	ENSP00000512218.1:n.5300+124_5300+126del
ENST00000423902.7:c.5300+124_5300+126del MANE Select	ENSP00000392028.1:n.5300+124_5300+126del
ENST00000423902.6:c.5300+124_5300+126del	ENSP00000392028.1:n.5300+124_5300+126del
ENST00000524602.5:c.1717-13501_1717-13499del	ENSP00000437061.1:n.1717-13501_1717-13499del
NM_001316690.1:c.1717-13501_1717-13499del	NP_001303619.1:n.1717-13501_1717-13499del
NM_017780.3:c.5300+124_5300+126del	NP_060250.2:n.5300+124_5300+126del
XM_011517553.1:c.5390+124_5390+126del	XP_011515855.1:n.5390+124_5390+126del
XM_011517554.1:c.5390+124_5390+126del	XP_011515856.1:n.5390+124_5390+126del
XM_011517555.1:c.5390+124_5390+126del	XP_011515857.1:n.5390+124_5390+126del
XM_011517556.1:c.5390+124_5390+126del	XP_011515858.1:n.5390+124_5390+126del
XM_011517557.1:c.3377+124_3377+126del	XP_011515859.1:n.3377+124_3377+126del
XM_011517558.1:c.2927+124_2927+126del	XP_011515860.1:n.2927+124_2927+126del
XM_011517559.1:c.2135+124_2135+126del	XP_011515861.1:n.2135+124_2135+126del
XM_011517553.2:c.5390+124_5390+126del	XP_011515855.1:n.5390+124_5390+126del
XM_011517554.3:c.5390+124_5390+126del	XP_011515856.1:n.5390+124_5390+126del
XM_011517555.2:c.5390+124_5390+126del	XP_011515857.1:n.5390+124_5390+126del
XM_017013612.1:c.5390+124_5390+126del	XP_016869101.1:n.5390+124_5390+126del
XM_017013613.1:c.5300+124_5300+126del	XP_016869102.1:n.5300+124_5300+126del
NM_017780.4:c.5300+124_5300+126del MANE Select	NP_060250.2:n.5300+124_5300+126del