Canonical Allele Identifier: CA2671960698

Gene: BLTP1

Linked Data

• gnomAD v4: 4-122194487-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122194491_122194492del , CM000666.2:g.122194491_122194492del	GRCh38
NC_000004.11:g.123115646_123115647del , CM000666.1:g.123115646_123115647del	GRCh37
NC_000004.10:g.123335096_123335097del	NCBI36
NG_015813.1:g.28889_28890del
NG_015813.2:g.28889_28890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388738.8:c.1052+2112_1052+2113del	ENSP00000373390.4:n.1052+2112_1052+2113del
ENST00000684987.1:n.1375+2112_1375+2113del
ENST00000686075.1:n.1375+2112_1375+2113del
ENST00000687476.1:n.1193+2112_1193+2113del
ENST00000688884.1:n.1375+2112_1375+2113del
ENST00000690536.1:n.1375+2112_1375+2113del
ENST00000693334.1:n.1375+2112_1375+2113del
ENST00000693420.1:c.1052+2112_1052+2113del	ENSP00000509435.1:n.1052+2112_1052+2113del
ENST00000679879.1:c.1052+2112_1052+2113del MANE Select	ENSP00000505357.1:n.1052+2112_1052+2113del
ENST00000264501.8:c.1052+2112_1052+2113del	ENSP00000264501.4:n.1052+2112_1052+2113del
ENST00000388738.7:c.1052+2112_1052+2113del	ENSP00000373390.3:n.1052+2112_1052+2113del
ENST00000424425.5:c.549+2112_549+2113del
NM_015312.3:c.1052+2112_1052+2113del	NP_056127.2:n.1052+2112_1052+2113del
XM_005263282.1:c.1052+2112_1052+2113del	XP_005263339.1:n.1052+2112_1052+2113del
XM_005263287.1:c.1052+2112_1052+2113del	XP_005263344.1:n.1052+2112_1052+2113del
XM_006714343.1:c.1052+2112_1052+2113del	XP_006714406.1:n.1052+2112_1052+2113del
XM_006714344.1:c.1052+2112_1052+2113del	XP_006714407.1:n.1052+2112_1052+2113del
XM_011532319.1:c.1052+2112_1052+2113del	XP_011530621.1:n.1052+2112_1052+2113del
XM_011532320.1:c.1052+2112_1052+2113del	XP_011530622.1:n.1052+2112_1052+2113del
XM_011532321.1:c.1052+2112_1052+2113del	XP_011530623.1:n.1052+2112_1052+2113del
XM_011532322.1:c.1052+2112_1052+2113del	XP_011530624.1:n.1052+2112_1052+2113del
XM_011532323.1:c.1052+2112_1052+2113del	XP_011530625.1:n.1052+2112_1052+2113del
XM_011532324.1:c.1052+2112_1052+2113del	XP_011530626.1:n.1052+2112_1052+2113del
XM_011532325.1:c.1052+2112_1052+2113del	XP_011530627.1:n.1052+2112_1052+2113del
XM_011532326.1:c.1052+2112_1052+2113del	XP_011530628.1:n.1052+2112_1052+2113del
XM_011532327.1:c.902+2112_902+2113del	XP_011530629.1:n.902+2112_902+2113del
XM_011532328.1:c.1052+2112_1052+2113del	XP_011530630.1:n.1052+2112_1052+2113del
XM_011532329.1:c.1052+2112_1052+2113del	XP_011530631.1:n.1052+2112_1052+2113del
XM_011532331.1:c.1052+2112_1052+2113del	XP_011530633.1:n.1052+2112_1052+2113del
XR_938781.1:n.1425+2112_1425+2113del
XR_938782.1:n.1425+2112_1425+2113del
XR_938783.1:n.1425+2112_1425+2113del
XM_011532320.3:c.1052+2112_1052+2113del	XP_011530622.1:n.1052+2112_1052+2113del
XM_011532321.2:c.1052+2112_1052+2113del	XP_011530623.1:n.1052+2112_1052+2113del
XM_017008695.1:c.1052+2112_1052+2113del	XP_016864184.1:n.1052+2112_1052+2113del
XM_017008696.1:c.1052+2112_1052+2113del	XP_016864185.1:n.1052+2112_1052+2113del
XM_017008697.1:c.1052+2112_1052+2113del	XP_016864186.1:n.1052+2112_1052+2113del
XM_017008699.1:c.1052+2112_1052+2113del	XP_016864188.1:n.1052+2112_1052+2113del
XR_001741335.2:n.1425+2112_1425+2113del
XR_001741336.1:n.1425+2112_1425+2113del
XR_001741337.1:n.1425+2112_1425+2113del
NM_001384125.1:c.1052+2112_1052+2113del MANE Select	NP_001371054.1:n.1052+2112_1052+2113del
NM_015312.4:c.1052+2112_1052+2113del	NP_056127.2:n.1052+2112_1052+2113del