Canonical Allele Identifier: CA62726974

Gene: DNAH7

Linked Data

• dbSNP Id: rs977828766
• MyVariant Identifiers: chr2:g.196651957_196651958del (hg19) ; chr2:g.195787233_195787234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787235_195787236del , CM000664.2:g.195787235_195787236del	GRCh38
NC_000002.11:g.196651959_196651960del , CM000664.1:g.196651959_196651960del	GRCh37
NC_000002.10:g.196360204_196360205del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10717-63_10717-62del MANE Select	ENSP00000311273.6:n.10717-63_10717-62del
ENST00000312428.10:c.10717-63_10717-62del	ENSP00000311273.6:n.10717-63_10717-62del
ENST00000409063.5:c.166-63_166-62del	ENSP00000386912.1:n.166-63_166-62del
NM_018897.2:c.10717-63_10717-62del	NP_061720.2:n.10717-63_10717-62del
XM_011511487.1:c.10717-63_10717-62del	XP_011509789.1:n.10717-63_10717-62del
XM_011511488.1:c.10597-63_10597-62del	XP_011509790.1:n.10597-63_10597-62del
XM_011511489.1:c.10579-63_10579-62del	XP_011509791.1:n.10579-63_10579-62del
XM_011511490.1:c.10492-63_10492-62del	XP_011509792.1:n.10492-63_10492-62del
XM_011511496.1:c.6361-63_6361-62del	XP_011509798.1:n.6361-63_6361-62del
XM_011511497.1:c.5089-63_5089-62del	XP_011509799.1:n.5089-63_5089-62del
XM_011511488.3:c.10597-63_10597-62del	XP_011509790.1:n.10597-63_10597-62del
XM_011511489.2:c.10579-63_10579-62del	XP_011509791.1:n.10579-63_10579-62del
XM_011511490.3:c.10492-63_10492-62del	XP_011509792.1:n.10492-63_10492-62del
XM_011511497.2:c.5089-63_5089-62del	XP_011509799.1:n.5089-63_5089-62del
XM_017004504.2:c.10444-63_10444-62del	XP_016859993.1:n.10444-63_10444-62del
NM_018897.3:c.10717-63_10717-62del MANE Select	NP_061720.2:n.10717-63_10717-62del