Canonical Allele Identifier: CA169829392

Gene: LMBR1

Linked Data

• ClinVar Variation Id: 1223271
• ClinVar RCV Id: RCV001596211
• dbSNP Id: rs773834545
• gnomAD v2: 7-156685538-TCCGGGGA-T
• gnomAD v3: 7-156892844-TCCGGGGA-T
• gnomAD v4: 7-156892844-TCCGGGGA-T
• MyVariant Identifiers: chr7:g.156685539_156685545del (hg19) ; chr7:g.156892845_156892851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156892851_156892857del , CM000669.2:g.156892851_156892857del	GRCh38
NC_000007.13:g.156685545_156685551del , CM000669.1:g.156685545_156685551del	GRCh37
NC_000007.12:g.156378306_156378312del	NCBI36
NG_009240.1:g.5358_5364del
NG_009240.2:g.5358_5364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353442.10:c.66+77_66+83del MANE Select	ENSP00000326604.7:n.66+77_66+83del
ENST00000353442.9:c.66+77_66+83del	ENSP00000326604.7:n.66+77_66+83del
ENST00000359422.8:c.-391+77_-391+83del	ENSP00000352392.4:n.-391+77_-391+83del
ENST00000414218.1:c.66+77_66+83del	ENSP00000392557.1:n.66+77_66+83del
ENST00000415428.5:c.60+77_60+83del	ENSP00000408256.1:n.60+77_60+83del
ENST00000430278.5:n.256+77_256+83del
ENST00000433968.5:n.256+77_256+83del
ENST00000434278.5:c.66+77_66+83del	ENSP00000413539.1:n.66+77_66+83del
ENST00000434453.1:c.66+77_66+83del	ENSP00000397698.1:n.66+77_66+83del
ENST00000434503.5:c.66+77_66+83del	ENSP00000395754.1:n.66+77_66+83del
ENST00000444719.5:c.66+77_66+83del	ENSP00000393928.1:n.66+77_66+83del
ENST00000454132.5:c.66+77_66+83del	ENSP00000414795.1:n.66+77_66+83del
ENST00000485985.1:n.256+77_256+83del
NM_022458.3:c.66+77_66+83del	NP_071903.2:n.66+77_66+83del
XM_005249555.2:c.66+77_66+83del	XP_005249612.1:n.66+77_66+83del
XM_005249558.2:c.66+77_66+83del	XP_005249615.1:n.66+77_66+83del
XR_428185.1:n.256+77_256+83del
XR_927508.1:n.256+77_256+83del
NM_001350953.1:c.66+77_66+83del	NP_001337882.1:n.66+77_66+83del
NM_001350954.1:c.-74+77_-74+83del	NP_001337883.1:n.-74+77_-74+83del
NM_001350955.1:c.-567+77_-567+83del	NP_001337884.1:n.-567+77_-567+83del
NM_001350956.1:c.-469+77_-469+83del	NP_001337885.1:n.-469+77_-469+83del
NM_001350957.1:c.-402+77_-402+83del	NP_001337886.1:n.-402+77_-402+83del
NM_001350958.1:c.-469+77_-469+83del	NP_001337887.1:n.-469+77_-469+83del
NM_001363409.1:c.66+77_66+83del	NP_001350338.1:n.66+77_66+83del
NM_001363410.1:c.66+77_66+83del	NP_001350339.1:n.66+77_66+83del
NM_001363411.1:c.-402+77_-402+83del	NP_001350340.1:n.-402+77_-402+83del
NM_001363412.1:c.76+77_76+83del	NP_001350341.1:n.76+77_76+83del
NM_001363413.1:c.-587+77_-587+83del	NP_001350342.1:n.-587+77_-587+83del
NR_146958.1:n.281+77_281+83del
NR_146959.1:n.281+77_281+83del
XM_017012515.2:c.66+77_66+83del	XP_016868004.1:n.66+77_66+83del
XR_001744847.1:n.256+77_256+83del
XR_001744848.1:n.256+77_256+83del
XR_001744850.1:n.256+77_256+83del
XR_002956477.1:n.256+77_256+83del
XR_002956478.1:n.256+77_256+83del
XR_002956479.1:n.255+77_255+83del
XR_002956480.1:n.256+77_256+83del
XR_002956481.1:n.256+77_256+83del
XR_002956482.1:n.217+77_217+83del
NM_001350953.2:c.66+77_66+83del	NP_001337882.1:n.66+77_66+83del
NM_001350954.2:c.-74+77_-74+83del	NP_001337883.1:n.-74+77_-74+83del
NM_001350955.2:c.-567+77_-567+83del	NP_001337884.1:n.-567+77_-567+83del
NM_001350956.2:c.-469+77_-469+83del	NP_001337885.1:n.-469+77_-469+83del
NM_001350957.2:c.-402+77_-402+83del	NP_001337886.1:n.-402+77_-402+83del
NM_001350958.2:c.-469+77_-469+83del	NP_001337887.1:n.-469+77_-469+83del
NM_001363409.2:c.66+77_66+83del	NP_001350338.1:n.66+77_66+83del
NM_001363410.2:c.66+77_66+83del	NP_001350339.1:n.66+77_66+83del
NM_001363411.2:c.-402+77_-402+83del	NP_001350340.1:n.-402+77_-402+83del
NM_001363412.2:c.76+77_76+83del	NP_001350341.1:n.76+77_76+83del
NM_001363413.2:c.-587+77_-587+83del	NP_001350342.1:n.-587+77_-587+83del
NM_022458.4:c.66+77_66+83del MANE Select	NP_071903.2:n.66+77_66+83del
NR_146958.2:n.256+77_256+83del
NR_146959.2:n.256+77_256+83del