Canonical Allele Identifier: CA294401236

Gene: DNAH17

Linked Data

• dbSNP Id: rs1030009421
• gnomAD v3: 17-78566980-A-AC
• gnomAD v4: 17-78566980-A-AC
• MyVariant Identifiers: chr17:g.76563062_76563063insC (hg19) ; chr17:g.78566980_78566981insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78566983dup , CM000679.2:g.78566983dup	GRCh38
NC_000017.10:g.76563065dup , CM000679.1:g.76563065dup	GRCh37
NC_000017.9:g.74074660dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1452+18dup MANE Select	ENSP00000374490.6:n.1452+18dup
ENST00000389840.6:c.1452+18dup	ENSP00000374490.6:n.1452+18dup
ENST00000585328.5:c.1452+18dup	ENSP00000465516.1:n.1452+18dup
ENST00000589793.1:n.664+18dup
NM_173628.3:c.1452+18dup	NP_775899.3:n.1452+18dup
XM_011525416.1:c.1452+18dup	XP_011523718.1:n.1452+18dup
XM_011525417.1:c.1452+18dup	XP_011523719.1:n.1452+18dup
XR_934583.1:n.1613+18dup
XM_011525416.2:c.1452+18dup	XP_011523718.1:n.1452+18dup
XM_024451013.1:c.1452+18dup	XP_024306781.1:n.1452+18dup
XM_024451014.1:c.1452+18dup	XP_024306782.1:n.1452+18dup
XR_002958080.1:n.1615+18dup
XR_002958081.1:n.1619+18dup
NM_173628.4:c.1452+18dup MANE Select	NP_775899.3:n.1452+18dup