Canonical Allele Identifier: CA1663194939
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516065_129516075delinsACCACTAACTT , CM000668.2:g.129516065_129516075delinsACCACTAACTT GRCh38
NC_000006.11:g.129837210_129837220delinsACCACTAACTT , CM000668.1:g.129837210_129837220delinsACCACTAACTT GRCh37
NC_000006.10:g.129878903_129878913delinsACCACTAACTT NCBI36
NG_008678.1:g.637925_637935delinsACCACTAACTT , LRG_409:g.637925_637935delinsACCACTAACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1277-125_1277-115delinsACCACTAACTT ENSP00000510626.1:n.1277-125_1277-115delinsACCACTAACTT
ENST00000498257.6:c.1277-125_1277-115delinsACCACTAACTT ENSP00000510533.1:n.1277-125_1277-115delinsACCACTAACTT
ENST00000617695.5:c.9200-125_9200-115delinsACCACTAACTT ENSP00000481744.2:n.9200-125_9200-115delinsACCACTAACTT
ENST00000618192.5:c.9476-125_9476-115delinsACCACTAACTT ENSP00000480802.2:n.9476-125_9476-115delinsACCACTAACTT
ENST00000688198.1:n.2190-125_2190-115delinsACCACTAACTT
ENST00000688799.1:c.1277-125_1277-115delinsACCACTAACTT ENSP00000508458.1:n.1277-125_1277-115delinsACCACTAACTT
ENST00000690858.1:n.4085-125_4085-115delinsACCACTAACTT
ENST00000693461.1:n.1549-125_1549-115delinsACCACTAACTT
ENST00000421865.3:c.9212-125_9212-115delinsACCACTAACTT MANE Select ENSP00000400365.2:n.9212-125_9212-115delinsACCACTAACTT
ENST00000421865.2:c.9212-125_9212-115delinsACCACTAACTT ENSP00000400365.2:n.9212-125_9212-115delinsACCACTAACTT
ENST00000617695.4:c.9200-125_9200-115delinsACCACTAACTT ENSP00000481744.1:n.9200-125_9200-115delinsACCACTAACTT
ENST00000618192.4:c.9209-125_9209-115delinsACCACTAACTT ENSP00000480802.1:n.9209-125_9209-115delinsACCACTAACTT
NM_000426.3:c.9212-125_9212-115delinsACCACTAACTT , LRG_409t1:c.9212-125_9212-115delinsACCACTAACTT NP_000417.2:n.9212-125_9212-115delinsACCACTAACTT
NM_001079823.1:c.9200-125_9200-115delinsACCACTAACTT NP_001073291.1:n.9200-125_9200-115delinsACCACTAACTT
XM_005266981.2:c.9476-125_9476-115delinsACCACTAACTT XP_005267038.1:n.9476-125_9476-115delinsACCACTAACTT
XM_005266982.2:c.9464-125_9464-115delinsACCACTAACTT XP_005267039.1:n.9464-125_9464-115delinsACCACTAACTT
XM_011535820.1:c.9470-125_9470-115delinsACCACTAACTT XP_011534122.1:n.9470-125_9470-115delinsACCACTAACTT
XR_942984.1:n.1460+6402_1460+6412delinsAAGTTAGTGGT
XR_942985.1:n.1324+6402_1324+6412delinsAAGTTAGTGGT
XM_005266981.3:c.9476-125_9476-115delinsACCACTAACTT XP_005267038.1:n.9476-125_9476-115delinsACCACTAACTT
XM_005266982.3:c.9464-125_9464-115delinsACCACTAACTT XP_005267039.1:n.9464-125_9464-115delinsACCACTAACTT
XM_011535820.2:c.9470-125_9470-115delinsACCACTAACTT XP_011534122.1:n.9470-125_9470-115delinsACCACTAACTT
XM_017010851.2:c.9482-125_9482-115delinsACCACTAACTT XP_016866340.1:n.9482-125_9482-115delinsACCACTAACTT
XM_017010852.1:c.7607-125_7607-115delinsACCACTAACTT XP_016866341.1:n.7607-125_7607-115delinsACCACTAACTT
XR_001743859.1:n.3900+6402_3900+6412delinsAAGTTAGTGGT
XR_001743860.1:n.1179+6402_1179+6412delinsAAGTTAGTGGT
XR_001743861.1:n.1346+6402_1346+6412delinsAAGTTAGTGGT
XR_001743863.1:n.883-13284_883-13274delinsAAGTTAGTGGT
XR_002956395.1:n.9131+6402_9131+6412delinsAAGTTAGTGGT
XR_002956396.1:n.3126+6402_3126+6412delinsAAGTTAGTGGT
NM_000426.4:c.9212-125_9212-115delinsACCACTAACTT MANE Select NP_000417.3:n.9212-125_9212-115delinsACCACTAACTT
NM_001079823.2:c.9200-125_9200-115delinsACCACTAACTT NP_001073291.2:n.9200-125_9200-115delinsACCACTAACTT