Canonical Allele Identifier: CA2668968177

Gene: KNG1

Linked Data

• gnomAD v4: 3-186742044-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186742047del , CM000665.2:g.186742047del	GRCh38
NC_000003.11:g.186459836del , CM000665.1:g.186459836del	GRCh37
NC_000003.10:g.187942530del	NCBI36
NG_016009.1:g.29739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287611.8:c.1203+448del	ENSP00000287611.2:n.1203+448del
ENST00000644859.2:c.1651del MANE Select	ENSP00000493985.1:p.Leu551Ter
ENST00000265023.8:c.1651del	ENSP00000265023.4:p.Leu551Ter
ENST00000287611.6:c.1203+448del	ENSP00000287611.2:n.1203+448del
ENST00000447445.1:c.1095+448del	ENSP00000396025.1:n.1095+448del
NM_000893.3:c.1203+448del	NP_000884.1:n.1203+448del
NM_001102416.2:c.1651del	NP_001095886.1:p.Leu551Ter
NM_001166451.1:c.1095+448del	NP_001159923.1:n.1095+448del
NM_000893.4:c.1203+448del	NP_000884.1:n.1203+448del
NM_001102416.3:c.1651del MANE Select	NP_001095886.1:p.Leu551Ter
NM_001166451.2:c.1095+448del	NP_001159923.1:n.1095+448del