Canonical Allele Identifier: CA818867774

Gene: LAMA2

Linked Data

• dbSNP Id: rs34252072
• gnomAD v3: 6-129516022-ATCTT-A
• gnomAD v4: 6-129516022-ATCTT-A
• MyVariant Identifiers: chr6:g.129837168_129837171del (hg19) ; chr6:g.129516023_129516026del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516030_129516033del , CM000668.2:g.129516030_129516033del	GRCh38
NC_000006.11:g.129837175_129837178del , CM000668.1:g.129837175_129837178del	GRCh37
NC_000006.10:g.129878868_129878871del	NCBI36
NG_008678.1:g.637890_637893del , LRG_409:g.637890_637893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1277-160_1277-157del	ENSP00000510626.1:n.1277-160_1277-157del
ENST00000498257.6:c.1277-160_1277-157del	ENSP00000510533.1:n.1277-160_1277-157del
ENST00000617695.5:c.9200-160_9200-157del	ENSP00000481744.2:n.9200-160_9200-157del
ENST00000618192.5:c.9476-160_9476-157del	ENSP00000480802.2:n.9476-160_9476-157del
ENST00000688198.1:n.2190-160_2190-157del
ENST00000688799.1:c.1277-160_1277-157del	ENSP00000508458.1:n.1277-160_1277-157del
ENST00000690858.1:n.4085-160_4085-157del
ENST00000693461.1:n.1549-160_1549-157del
ENST00000421865.3:c.9212-160_9212-157del MANE Select	ENSP00000400365.2:n.9212-160_9212-157del
ENST00000421865.2:c.9212-160_9212-157del	ENSP00000400365.2:n.9212-160_9212-157del
ENST00000617695.4:c.9200-160_9200-157del	ENSP00000481744.1:n.9200-160_9200-157del
ENST00000618192.4:c.9209-160_9209-157del	ENSP00000480802.1:n.9209-160_9209-157del
NM_000426.3:c.9212-160_9212-157del , LRG_409t1:c.9212-160_9212-157del	NP_000417.2:n.9212-160_9212-157del
NM_001079823.1:c.9200-160_9200-157del	NP_001073291.1:n.9200-160_9200-157del
XM_005266981.2:c.9476-160_9476-157del	XP_005267038.1:n.9476-160_9476-157del
XM_005266982.2:c.9464-160_9464-157del	XP_005267039.1:n.9464-160_9464-157del
XM_011535820.1:c.9470-160_9470-157del	XP_011534122.1:n.9470-160_9470-157del
XR_942984.1:n.1460+6451_1460+6454del
XR_942985.1:n.1324+6451_1324+6454del
XM_005266981.3:c.9476-160_9476-157del	XP_005267038.1:n.9476-160_9476-157del
XM_005266982.3:c.9464-160_9464-157del	XP_005267039.1:n.9464-160_9464-157del
XM_011535820.2:c.9470-160_9470-157del	XP_011534122.1:n.9470-160_9470-157del
XM_017010851.2:c.9482-160_9482-157del	XP_016866340.1:n.9482-160_9482-157del
XM_017010852.1:c.7607-160_7607-157del	XP_016866341.1:n.7607-160_7607-157del
XR_001743859.1:n.3900+6451_3900+6454del
XR_001743860.1:n.1179+6451_1179+6454del
XR_001743861.1:n.1346+6451_1346+6454del
XR_001743863.1:n.883-13235_883-13232del
XR_002956395.1:n.9131+6451_9131+6454del
XR_002956396.1:n.3126+6451_3126+6454del
NM_000426.4:c.9212-160_9212-157del MANE Select	NP_000417.3:n.9212-160_9212-157del
NM_001079823.2:c.9200-160_9200-157del	NP_001073291.2:n.9200-160_9200-157del