Canonical Allele Identifier: CA45113121

Gene: GALNT14

Linked Data

• dbSNP Id: rs528965207
• MyVariant Identifiers: chr2:g.31297613_31297614del (hg19) ; chr2:g.31074747_31074748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31074749_31074750del , CM000664.2:g.31074749_31074750del	GRCh38
NC_000002.11:g.31297615_31297616del , CM000664.1:g.31297615_31297616del	GRCh37
NC_000002.10:g.31151119_31151120del	NCBI36
NG_051040.1:g.68979_68980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349752.10:c.129+63210_129+63211del MANE Select	ENSP00000288988.6:n.129+63210_129+63211del
ENST00000324589.9:c.314+39995_314+39996del	ENSP00000314500.5:n.314+39995_314+39996del
ENST00000349752.9:c.129+63210_129+63211del	ENSP00000288988.6:n.129+63210_129+63211del
ENST00000406653.5:c.69+39995_69+39996del	ENSP00000385435.1:n.69+39995_69+39996del
ENST00000424136.5:c.181+57882_181+57883del
ENST00000430167.1:c.129+63210_129+63211del	ENSP00000406399.1:n.129+63210_129+63211del
ENST00000455477.5:c.198+50406_198+50407del
ENST00000461193.5:n.164+50406_164+50407del
ENST00000464038.5:n.388+72174_388+72175del
ENST00000485468.1:n.290+4186_290+4187del
ENST00000490212.5:n.364+54529_364+54530del
ENST00000496397.5:n.202-1573_202-1572del
ENST00000498206.5:n.358+39995_358+39996del
NM_001253826.1:c.314+39995_314+39996del	NP_001240755.1:n.314+39995_314+39996del
NM_001253827.1:c.69+39995_69+39996del	NP_001240756.1:n.69+39995_69+39996del
NM_024572.3:c.129+63210_129+63211del	NP_078848.2:n.129+63210_129+63211del
NR_045602.1:n.902+4186_902+4187del
XM_011533104.1:c.447+4186_447+4187del	XP_011531406.1:n.447+4186_447+4187del
XM_011533105.1:c.69+39995_69+39996del	XP_011531407.1:n.69+39995_69+39996del
XM_011533106.1:c.42+72174_42+72175del	XP_011531408.1:n.42+72174_42+72175del
NM_001329095.1:c.24+4186_24+4187del	NP_001316024.1:n.24+4186_24+4187del
NM_001329096.1:c.69+39995_69+39996del	NP_001316025.1:n.69+39995_69+39996del
NM_001329097.1:c.129+63210_129+63211del	NP_001316026.1:n.129+63210_129+63211del
XM_017004906.1:c.162+4186_162+4187del	XP_016860395.1:n.162+4186_162+4187del
XM_017004907.1:c.162+4186_162+4187del	XP_016860396.1:n.162+4186_162+4187del
XR_001738941.1:n.236+4186_236+4187del
XR_001738942.1:n.236+4186_236+4187del
XR_001738943.1:n.245+4186_245+4187del
NM_024572.4:c.129+63210_129+63211del MANE Select	NP_078848.2:n.129+63210_129+63211del
NM_001253826.2:c.314+39995_314+39996del	NP_001240755.1:n.314+39995_314+39996del
NM_001329095.2:c.24+4186_24+4187del	NP_001316024.1:n.24+4186_24+4187del
NM_001329096.2:c.69+39995_69+39996del	NP_001316025.1:n.69+39995_69+39996del
NM_001329097.2:c.129+63210_129+63211del	NP_001316026.1:n.129+63210_129+63211del
NM_001253827.2:c.69+39995_69+39996del	NP_001240756.1:n.69+39995_69+39996del