Canonical Allele Identifier: CA2687403541

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865126-C-CGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865127_60865128insTGG , CM000670.2:g.60865127_60865128insTGG	GRCh38
NC_000008.10:g.61777686_61777687insTGG , CM000670.1:g.61777686_61777687insTGG	GRCh37
NC_000008.9:g.61940240_61940241insTGG	NCBI36
NG_007009.1:g.191348_191349insTGG , LRG_176:g.191348_191349insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1364_1365insTGG
ENST00000695852.1:n.295_296insTGG
ENST00000695853.1:c.*1247_*1248insTGG	ENSP00000512218.1:n.*1247_*1248insTGG
ENST00000423902.7:c.8188_8189insTGG MANE Select	ENSP00000392028.1:p.Ala2729_Ala2730insVal
ENST00000423902.6:c.8188_8189insTGG	ENSP00000392028.1:p.Ala2729_Ala2730insVal
ENST00000524602.5:c.2041_2042insTGG	ENSP00000437061.1:p.Ala680_Ala681insVal
ENST00000528280.1:n.234_235insTGG
ENST00000532149.1:n.610_611insTGG
NM_001316690.1:c.2041_2042insTGG	NP_001303619.1:p.Ala680_Ala681insVal
NM_017780.3:c.8188_8189insTGG	NP_060250.2:p.Ala2729_Ala2730insVal
XM_011517553.1:c.8278_8279insTGG	XP_011515855.1:p.Ala2759_Ala2760insVal
XM_011517554.1:c.8278_8279insTGG	XP_011515856.1:p.Ala2759_Ala2760insVal
XM_011517555.1:c.8275_8276insTGG	XP_011515857.1:p.Ala2758_Ala2759insVal
XM_011517556.1:c.8056_8057insTGG	XP_011515858.1:p.Ala2685_Ala2686insVal
XM_011517557.1:c.6265_6266insTGG	XP_011515859.1:p.Ala2088_Ala2089insVal
XM_011517558.1:c.5815_5816insTGG	XP_011515860.1:p.Ala1938_Ala1939insVal
XM_011517559.1:c.5023_5024insTGG	XP_011515861.1:p.Ala1674_Ala1675insVal
XM_011517553.2:c.8278_8279insTGG	XP_011515855.1:p.Ala2759_Ala2760insVal
XM_011517554.3:c.8278_8279insTGG	XP_011515856.1:p.Ala2759_Ala2760insVal
XM_011517555.2:c.8275_8276insTGG	XP_011515857.1:p.Ala2758_Ala2759insVal
XM_017013612.1:c.8278_8279insTGG	XP_016869101.1:p.Ala2759_Ala2760insVal
XM_017013613.1:c.8185_8186insTGG	XP_016869102.1:p.Ala2728_Ala2729insVal
NM_017780.4:c.8188_8189insTGG MANE Select	NP_060250.2:p.Ala2729_Ala2730insVal