Canonical Allele Identifier: CA4179962

Gene: DNAH11

Linked Data

• dbSNP Id: rs748619757
• ExAC: 7:21658679 ATG / A
• gnomAD v2: 7-21658679-ATG-A
• gnomAD v4: 7-21619061-ATG-A
• MyVariant Identifiers: chr7:g.21658680_21658681del (hg19) ; chr7:g.21619062_21619063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21619064_21619065del , CM000669.2:g.21619064_21619065del	GRCh38
NC_000007.13:g.21658682_21658683del , CM000669.1:g.21658682_21658683del	GRCh37
NC_000007.12:g.21625207_21625208del	NCBI36
NG_012886.2:g.80850_80851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4255-36_4255-35del MANE Select	ENSP00000475939.1:n.4255-36_4255-35del
ENST00000328843.10:c.4270-36_4270-35del	ENSP00000330671.7:n.4270-36_4270-35del
ENST00000409508.7:c.4255-36_4255-35del	ENSP00000475939.1:n.4255-36_4255-35del
ENST00000465593.1:n.281-36_281-35del
ENST00000620169.4:c.4270-36_4270-35del	ENSP00000481693.1:n.4270-36_4270-35del
NM_001277115.1:c.4255-36_4255-35del	NP_001264044.1:n.4255-36_4255-35del
NM_001277115.2:c.4255-36_4255-35del MANE Select	NP_001264044.1:n.4255-36_4255-35del