Canonical Allele Identifier: CA45113111

Gene: GALNT14

Linked Data

• dbSNP Id: rs920797346
• MyVariant Identifiers: chr2:g.31297561_31297564del (hg19) ; chr2:g.31074695_31074698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31074701_31074704del , CM000664.2:g.31074701_31074704del	GRCh38
NC_000002.11:g.31297567_31297570del , CM000664.1:g.31297567_31297570del	GRCh37
NC_000002.10:g.31151071_31151074del	NCBI36
NG_051040.1:g.69029_69032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349752.10:c.129+63260_129+63263del MANE Select	ENSP00000288988.6:n.129+63260_129+63263del
ENST00000324589.9:c.314+40045_314+40048del	ENSP00000314500.5:n.314+40045_314+40048del
ENST00000349752.9:c.129+63260_129+63263del	ENSP00000288988.6:n.129+63260_129+63263del
ENST00000406653.5:c.69+40045_69+40048del	ENSP00000385435.1:n.69+40045_69+40048del
ENST00000424136.5:c.181+57932_181+57935del
ENST00000430167.1:c.129+63260_129+63263del	ENSP00000406399.1:n.129+63260_129+63263del
ENST00000455477.5:c.198+50456_198+50459del
ENST00000461193.5:n.164+50456_164+50459del
ENST00000464038.5:n.388+72224_388+72227del
ENST00000485468.1:n.290+4236_290+4239del
ENST00000490212.5:n.364+54579_364+54582del
ENST00000496397.5:n.202-1523_202-1520del
ENST00000498206.5:n.358+40045_358+40048del
NM_001253826.1:c.314+40045_314+40048del	NP_001240755.1:n.314+40045_314+40048del
NM_001253827.1:c.69+40045_69+40048del	NP_001240756.1:n.69+40045_69+40048del
NM_024572.3:c.129+63260_129+63263del	NP_078848.2:n.129+63260_129+63263del
NR_045602.1:n.902+4236_902+4239del
XM_011533104.1:c.447+4236_447+4239del	XP_011531406.1:n.447+4236_447+4239del
XM_011533105.1:c.69+40045_69+40048del	XP_011531407.1:n.69+40045_69+40048del
XM_011533106.1:c.42+72224_42+72227del	XP_011531408.1:n.42+72224_42+72227del
NM_001329095.1:c.24+4236_24+4239del	NP_001316024.1:n.24+4236_24+4239del
NM_001329096.1:c.69+40045_69+40048del	NP_001316025.1:n.69+40045_69+40048del
NM_001329097.1:c.129+63260_129+63263del	NP_001316026.1:n.129+63260_129+63263del
XM_017004906.1:c.162+4236_162+4239del	XP_016860395.1:n.162+4236_162+4239del
XM_017004907.1:c.162+4236_162+4239del	XP_016860396.1:n.162+4236_162+4239del
XR_001738941.1:n.236+4236_236+4239del
XR_001738942.1:n.236+4236_236+4239del
XR_001738943.1:n.245+4236_245+4239del
NM_024572.4:c.129+63260_129+63263del MANE Select	NP_078848.2:n.129+63260_129+63263del
NM_001253826.2:c.314+40045_314+40048del	NP_001240755.1:n.314+40045_314+40048del
NM_001329095.2:c.24+4236_24+4239del	NP_001316024.1:n.24+4236_24+4239del
NM_001329096.2:c.69+40045_69+40048del	NP_001316025.1:n.69+40045_69+40048del
NM_001329097.2:c.129+63260_129+63263del	NP_001316026.1:n.129+63260_129+63263del
NM_001253827.2:c.69+40045_69+40048del	NP_001240756.1:n.69+40045_69+40048del