Canonical Allele Identifier: CA1114433845

Gene: CHD7

Linked Data

• gnomAD v3: 8-60852693-C-CATTAA
• gnomAD v4: 8-60852693-C-CATTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852694_60852695insTTAAA , CM000670.2:g.60852694_60852695insTTAAA	GRCh38
NC_000008.10:g.61765253_61765254insTTAAA , CM000670.1:g.61765253_61765254insTTAAA	GRCh37
NC_000008.9:g.61927807_61927808insTTAAA	NCBI36
NG_007009.1:g.178915_178916insTTAAA , LRG_176:g.178915_178916insTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6091_6092insTTAAA	ENSP00000512218.1:p.Lys2031IlefsTer14
ENST00000423902.7:c.6091_6092insTTAAA MANE Select	ENSP00000392028.1:p.Lys2031IlefsTer14
ENST00000423902.6:c.6091_6092insTTAAA	ENSP00000392028.1:p.Lys2031IlefsTer14
ENST00000524602.5:c.1717-9535_1717-9534insTTAAA	ENSP00000437061.1:n.1717-9535_1717-9534insTTAAA
NM_001316690.1:c.1717-9535_1717-9534insTTAAA	NP_001303619.1:n.1717-9535_1717-9534insTTAAA
NM_017780.3:c.6091_6092insTTAAA	NP_060250.2:p.Lys2031IlefsTer14
XM_011517553.1:c.6181_6182insTTAAA	XP_011515855.1:p.Lys2061IlefsTer14
XM_011517554.1:c.6181_6182insTTAAA	XP_011515856.1:p.Lys2061IlefsTer14
XM_011517555.1:c.6181_6182insTTAAA	XP_011515857.1:p.Lys2061IlefsTer14
XM_011517556.1:c.6181_6182insTTAAA	XP_011515858.1:p.Lys2061IlefsTer14
XM_011517557.1:c.4168_4169insTTAAA	XP_011515859.1:p.Lys1390IlefsTer14
XM_011517558.1:c.3718_3719insTTAAA	XP_011515860.1:p.Lys1240IlefsTer14
XM_011517559.1:c.2926_2927insTTAAA	XP_011515861.1:p.Lys976IlefsTer14
XM_011517553.2:c.6181_6182insTTAAA	XP_011515855.1:p.Lys2061IlefsTer14
XM_011517554.3:c.6181_6182insTTAAA	XP_011515856.1:p.Lys2061IlefsTer14
XM_011517555.2:c.6181_6182insTTAAA	XP_011515857.1:p.Lys2061IlefsTer14
XM_017013612.1:c.6181_6182insTTAAA	XP_016869101.1:p.Lys2061IlefsTer14
XM_017013613.1:c.6091_6092insTTAAA	XP_016869102.1:p.Lys2031IlefsTer14
NM_017780.4:c.6091_6092insTTAAA MANE Select	NP_060250.2:p.Lys2031IlefsTer14