Canonical Allele Identifier: CA155093782

Gene: DNAH11

Linked Data

• dbSNP Id: rs1041490206
• gnomAD v2: 7-21703944-GTTATCT-G
• gnomAD v3: 7-21664326-GTTATCT-G
• gnomAD v4: 7-21664326-GTTATCT-G
• MyVariant Identifiers: chr7:g.21703945_21703950del (hg19) ; chr7:g.21664327_21664332del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21664331_21664336del , CM000669.2:g.21664331_21664336del	GRCh38
NC_000007.13:g.21703949_21703954del , CM000669.1:g.21703949_21703954del	GRCh37
NC_000007.12:g.21670474_21670479del	NCBI36
NG_012886.2:g.126117_126122del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.5328+5300_5328+5305del MANE Select	ENSP00000475939.1:n.5328+5300_5328+5305de...
ENST00000328843.10:c.5343+5300_5343+5305del	ENSP00000330671.7:n.5343+5300_5343+5305de...
ENST00000409508.7:c.5328+5300_5328+5305del	ENSP00000475939.1:n.5328+5300_5328+5305de...
ENST00000620169.4:c.5343+5300_5343+5305del	ENSP00000481693.1:n.5343+5300_5343+5305de...
NM_001277115.1:c.5328+5300_5328+5305del	NP_001264044.1:n.5328+5300_5328+5305del
NM_001277115.2:c.5328+5300_5328+5305del MANE Select	NP_001264044.1:n.5328+5300_5328+5305del