Canonical Allele Identifier: CA658823176

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.128883272_128883274dup , CM000668.2:g.128883272_128883274dup	GRCh38
NC_000006.11:g.129204417_129204419dup , CM000668.1:g.129204417_129204419dup	GRCh37
NC_000006.10:g.129246110_129246112dup	NCBI36
NG_008678.1:g.5132_5134dup , LRG_409:g.5132_5134dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.27_29dup MANE Select	NP_000417.3:p.Leu10_Leu11insLeu
ENST00000421865.3:c.27_29dup MANE Select	ENSP00000400365.2:p.Leu10_Leu11insLeu
NM_000426.3:c.27_29dup , LRG_409t1:c.27_29dup	NP_000417.2:p.Leu10_Leu11insLeu
NM_001079823.1:c.27_29dup	NP_001073291.1:p.Leu10_Leu11insLeu
NM_001079823.2:c.27_29dup	NP_001073291.2:p.Leu10_Leu11insLeu
ENST00000421865.2:c.27_29dup	ENSP00000400365.2:p.Leu10_Leu11insLeu
ENST00000617695.4:c.27_29dup	ENSP00000481744.1:p.Leu10_Leu11insLeu
ENST00000617695.5:c.27_29dup	ENSP00000481744.2:p.Leu10_Leu11insLeu
ENST00000618192.4:c.27_29dup	ENSP00000480802.1:p.Leu10_Leu11insLeu
ENST00000618192.5:c.27_29dup	ENSP00000480802.2:p.Leu10_Leu11insLeu
ENST00000686577.1:n.93_95dup
ENST00000686599.1:n.132_134dup
XM_005266981.2:c.27_29dup	XP_005267038.1:p.Leu10_Leu11insLeu
XM_005266981.3:c.27_29dup	XP_005267038.1:p.Leu10_Leu11insLeu
XM_005266982.2:c.27_29dup	XP_005267039.1:p.Leu10_Leu11insLeu
XM_005266982.3:c.27_29dup	XP_005267039.1:p.Leu10_Leu11insLeu
XM_011535820.1:c.27_29dup	XP_011534122.1:p.Leu10_Leu11insLeu
XM_011535820.2:c.27_29dup	XP_011534122.1:p.Leu10_Leu11insLeu
XM_017010853.1:c.27_29dup	XP_016866342.1:p.Leu10_Leu11insLeu