Canonical Allele Identifier: CA2595088896

Gene: GALNT14

Linked Data

• gnomAD v3: 2-31074683-AAGAG-A
• gnomAD v4: 2-31074683-AAGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31074690_31074693del , CM000664.2:g.31074690_31074693del	GRCh38
NC_000002.11:g.31297556_31297559del , CM000664.1:g.31297556_31297559del	GRCh37
NC_000002.10:g.31151060_31151063del	NCBI36
NG_051040.1:g.69040_69043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349752.10:c.129+63271_129+63274del MANE Select	ENSP00000288988.6:n.129+63271_129+63274del
ENST00000324589.9:c.314+40056_314+40059del	ENSP00000314500.5:n.314+40056_314+40059del
ENST00000349752.9:c.129+63271_129+63274del	ENSP00000288988.6:n.129+63271_129+63274del
ENST00000406653.5:c.69+40056_69+40059del	ENSP00000385435.1:n.69+40056_69+40059del
ENST00000424136.5:c.181+57943_181+57946del
ENST00000430167.1:c.129+63271_129+63274del	ENSP00000406399.1:n.129+63271_129+63274del
ENST00000455477.5:c.198+50467_198+50470del
ENST00000461193.5:n.164+50467_164+50470del
ENST00000464038.5:n.388+72235_388+72238del
ENST00000485468.1:n.290+4247_290+4250del
ENST00000490212.5:n.364+54590_364+54593del
ENST00000496397.5:n.202-1512_202-1509del
ENST00000498206.5:n.358+40056_358+40059del
NM_001253826.1:c.314+40056_314+40059del	NP_001240755.1:n.314+40056_314+40059del
NM_001253827.1:c.69+40056_69+40059del	NP_001240756.1:n.69+40056_69+40059del
NM_024572.3:c.129+63271_129+63274del	NP_078848.2:n.129+63271_129+63274del
NR_045602.1:n.902+4247_902+4250del
XM_011533104.1:c.447+4247_447+4250del	XP_011531406.1:n.447+4247_447+4250del
XM_011533105.1:c.69+40056_69+40059del	XP_011531407.1:n.69+40056_69+40059del
XM_011533106.1:c.42+72235_42+72238del	XP_011531408.1:n.42+72235_42+72238del
NM_001329095.1:c.24+4247_24+4250del	NP_001316024.1:n.24+4247_24+4250del
NM_001329096.1:c.69+40056_69+40059del	NP_001316025.1:n.69+40056_69+40059del
NM_001329097.1:c.129+63271_129+63274del	NP_001316026.1:n.129+63271_129+63274del
XM_017004906.1:c.162+4247_162+4250del	XP_016860395.1:n.162+4247_162+4250del
XM_017004907.1:c.162+4247_162+4250del	XP_016860396.1:n.162+4247_162+4250del
XR_001738941.1:n.236+4247_236+4250del
XR_001738942.1:n.236+4247_236+4250del
XR_001738943.1:n.245+4247_245+4250del
NM_024572.4:c.129+63271_129+63274del MANE Select	NP_078848.2:n.129+63271_129+63274del
NM_001253826.2:c.314+40056_314+40059del	NP_001240755.1:n.314+40056_314+40059del
NM_001329095.2:c.24+4247_24+4250del	NP_001316024.1:n.24+4247_24+4250del
NM_001329096.2:c.69+40056_69+40059del	NP_001316025.1:n.69+40056_69+40059del
NM_001329097.2:c.129+63271_129+63274del	NP_001316026.1:n.129+63271_129+63274del
NM_001253827.2:c.69+40056_69+40059del	NP_001240756.1:n.69+40056_69+40059del