Canonical Allele Identifier: CA579057211
Community Standard Title: NM_022458.4(LMBR1):c.684+144_684+157dup
Gene: LMBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.156761979_156761992dup , CM000669.2:g.156761979_156761992dup GRCh38
NC_000007.13:g.156554673_156554686dup , CM000669.1:g.156554673_156554686dup GRCh37
NC_000007.12:g.156247434_156247447dup NCBI36
NG_009240.1:g.136219_136232dup
NG_009240.2:g.136219_136232dup

Transcript Alleles

HGVS Amino-acid Change
NM_022458.4:c.684+144_684+157dup MANE Select NP_071903.2:n.684+144_684+157dup
ENST00000353442.10:c.684+144_684+157dup MANE Select ENSP00000326604.7:n.684+144_684+157dup
NM_001350953.1:c.684+144_684+157dup NP_001337882.1:n.684+144_684+157dup
NM_001350953.2:c.684+144_684+157dup NP_001337882.1:n.684+144_684+157dup
NM_001350954.1:c.405+144_405+157dup NP_001337883.1:n.405+144_405+157dup
NM_001350954.2:c.405+144_405+157dup NP_001337883.1:n.405+144_405+157dup
NM_001350955.1:c.228+144_228+157dup NP_001337884.1:n.228+144_228+157dup
NM_001350955.2:c.228+144_228+157dup NP_001337884.1:n.228+144_228+157dup
NM_001350956.1:c.228+144_228+157dup NP_001337885.1:n.228+144_228+157dup
NM_001350956.2:c.228+144_228+157dup NP_001337885.1:n.228+144_228+157dup
NM_001350957.1:c.315+144_315+157dup NP_001337886.1:n.315+144_315+157dup
NM_001350957.2:c.315+144_315+157dup NP_001337886.1:n.315+144_315+157dup
NM_001350958.1:c.228+144_228+157dup NP_001337887.1:n.228+144_228+157dup
NM_001350958.2:c.228+144_228+157dup NP_001337887.1:n.228+144_228+157dup
NM_001363409.1:c.684+144_684+157dup NP_001350338.1:n.684+144_684+157dup
NM_001363409.2:c.684+144_684+157dup NP_001350338.1:n.684+144_684+157dup
NM_001363410.1:c.684+144_684+157dup NP_001350339.1:n.684+144_684+157dup
NM_001363410.2:c.684+144_684+157dup NP_001350339.1:n.684+144_684+157dup
NM_001363411.1:c.315+144_315+157dup NP_001350340.1:n.315+144_315+157dup
NM_001363411.2:c.315+144_315+157dup NP_001350340.1:n.315+144_315+157dup
NM_001363412.1:c.621+144_621+157dup NP_001350341.1:n.621+144_621+157dup
NM_001363412.2:c.621+144_621+157dup NP_001350341.1:n.621+144_621+157dup
NM_001363413.1:c.228+144_228+157dup NP_001350342.1:n.228+144_228+157dup
NM_001363413.2:c.228+144_228+157dup NP_001350342.1:n.228+144_228+157dup
NM_022458.3:c.684+144_684+157dup NP_071903.2:n.684+144_684+157dup
NR_146958.1:n.899+144_899+157dup
NR_146958.2:n.874+144_874+157dup
NR_146959.1:n.899+144_899+157dup
NR_146959.2:n.874+144_874+157dup
ENST00000353442.9:c.684+144_684+157dup ENSP00000326604.7:n.684+144_684+157dup
ENST00000359422.8:c.228+144_228+157dup ENSP00000352392.4:n.228+144_228+157dup
ENST00000415428.5:c.678+144_678+157dup ENSP00000408256.1:n.678+144_678+157dup
ENST00000434503.5:c.*166+144_*166+157dup ENSP00000395754.1:n.*166+144_*166+157dup
ENST00000448926.5:c.444+144_444+157dup ENSP00000403052.1:n.444+144_444+157dup
ENST00000454132.5:c.*721+144_*721+157dup ENSP00000414795.1:n.*721+144_*721+157dup
ENST00000477983.1:n.135+144_135+157dup
ENST00000650699.1:c.228+144_228+157dup ENSP00000498334.1:n.228+144_228+157dup
XM_005249555.2:c.684+144_684+157dup XP_005249612.1:n.684+144_684+157dup
XM_005249556.2:c.228+144_228+157dup XP_005249613.1:n.228+144_228+157dup
XM_005249558.2:c.684+144_684+157dup XP_005249615.1:n.684+144_684+157dup
XM_011516462.1:c.405+144_405+157dup XP_011514764.1:n.405+144_405+157dup
XM_017012515.2:c.684+144_684+157dup XP_016868004.1:n.684+144_684+157dup
XR_001744847.1:n.874+144_874+157dup
XR_001744848.1:n.874+144_874+157dup
XR_001744850.1:n.874+144_874+157dup
XR_002956477.1:n.874+144_874+157dup
XR_002956478.1:n.874+144_874+157dup
XR_002956479.1:n.733+144_733+157dup
XR_002956480.1:n.874+144_874+157dup
XR_002956481.1:n.952+144_952+157dup
XR_002956482.1:n.695+144_695+157dup
XR_428185.1:n.874+144_874+157dup
XR_927508.1:n.874+144_874+157dup