Canonical Allele Identifier: CA853921875

Gene: CHD7

Linked Data

• dbSNP Id: rs1431059889
• gnomAD v3: 8-60865136-G-GCTGCTGTGGCCTCCA
• gnomAD v4: 8-60865136-G-GCTGCTGTGGCCTCCA
• MyVariant Identifiers: chr8:g.61777695_61777696insCTGCTGTGGCCTCCA (hg19) ; chr8:g.60865136_60865137insCTGCTGTGGCCTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865138_60865152dup , CM000670.2:g.60865138_60865152dup	GRCh38
NC_000008.10:g.61777697_61777711dup , CM000670.1:g.61777697_61777711dup	GRCh37
NC_000008.9:g.61940251_61940265dup	NCBI36
NG_007009.1:g.191359_191373dup , LRG_176:g.191359_191373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1375_1389dup
ENST00000695852.1:n.306_320dup
ENST00000695853.1:c.*1258_*1272dup	ENSP00000512218.1:n.*1258_*1272dup
ENST00000423902.7:c.8199_8213dup MANE Select	ENSP00000392028.1:p.Thr2738_Ser2739insAlaValAlaSerThr
ENST00000423902.6:c.8199_8213dup	ENSP00000392028.1:p.Thr2738_Ser2739insAlaValAlaSerThr
ENST00000524602.5:c.2052_2066dup	ENSP00000437061.1:p.Thr689_Ser690insAlaValAlaSerThr
ENST00000528280.1:n.245_259dup
NM_001316690.1:c.2052_2066dup	NP_001303619.1:p.Thr689_Ser690insAlaValAlaSerThr
NM_017780.3:c.8199_8213dup	NP_060250.2:p.Thr2738_Ser2739insAlaValAlaSerThr
XM_011517553.1:c.8289_8303dup	XP_011515855.1:p.Thr2768_Ser2769insAlaValAlaSerThr
XM_011517554.1:c.8289_8303dup	XP_011515856.1:p.Thr2768_Ser2769insAlaValAlaSerThr
XM_011517555.1:c.8286_8300dup	XP_011515857.1:p.Thr2767_Ser2768insAlaValAlaSerThr
XM_011517556.1:c.8067_8081dup	XP_011515858.1:p.Thr2694_Ser2695insAlaValAlaSerThr
XM_011517557.1:c.6276_6290dup	XP_011515859.1:p.Thr2097_Ser2098insAlaValAlaSerThr
XM_011517558.1:c.5826_5840dup	XP_011515860.1:p.Thr1947_Ser1948insAlaValAlaSerThr
XM_011517559.1:c.5034_5048dup	XP_011515861.1:p.Thr1683_Ser1684insAlaValAlaSerThr
XM_011517553.2:c.8289_8303dup	XP_011515855.1:p.Thr2768_Ser2769insAlaValAlaSerThr
XM_011517554.3:c.8289_8303dup	XP_011515856.1:p.Thr2768_Ser2769insAlaValAlaSerThr
XM_011517555.2:c.8286_8300dup	XP_011515857.1:p.Thr2767_Ser2768insAlaValAlaSerThr
XM_017013612.1:c.8289_8303dup	XP_016869101.1:p.Thr2768_Ser2769insAlaValAlaSerThr
XM_017013613.1:c.8196_8210dup	XP_016869102.1:p.Thr2737_Ser2738insAlaValAlaSerThr
NM_017780.4:c.8199_8213dup MANE Select	NP_060250.2:p.Thr2738_Ser2739insAlaValAlaSerThr