Canonical Allele Identifier: CA597520138

Gene: NAV2

Linked Data

• gnomAD v2: 11-19569328-GTAA-G
• gnomAD v3: 11-19547781-GTAA-G
• gnomAD v4: 11-19547781-GTAA-G
• MyVariant Identifiers: chr11:g.19569329_19569331del (hg19) ; chr11:g.19547782_19547784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19547794_19547796del , CM000673.2:g.19547794_19547796del	GRCh38
NC_000011.9:g.19569341_19569343del , CM000673.1:g.19569341_19569343del	GRCh37
NC_000011.8:g.19525917_19525919del	NCBI36
NG_030347.1:g.202071_202073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360655.8:c.75+196767_75+196769del	ENSP00000353871.4:n.75+196767_75+196769del
NM_001111018.1:c.75+196767_75+196769del	NP_001104488.1:n.75+196767_75+196769del
XM_011520452.1:c.75+196767_75+196769del	XP_011518754.1:n.75+196767_75+196769del
XM_011520452.2:c.75+196767_75+196769del	XP_011518754.1:n.75+196767_75+196769del
XM_017018520.2:c.75+196767_75+196769del	XP_016874009.1:n.75+196767_75+196769del
XM_017018522.1:c.75+196767_75+196769del	XP_016874011.1:n.75+196767_75+196769del
XM_024448758.1:c.75+196767_75+196769del	XP_024304526.1:n.75+196767_75+196769del
NM_001111018.2:c.75+196767_75+196769del	NP_001104488.1:n.75+196767_75+196769del