Canonical Allele Identifier: CA2507336761
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481406_129481407insTT , CM000668.2:g.129481406_129481407insTT GRCh38
NC_000006.11:g.129802551_129802552insTT , CM000668.1:g.129802551_129802552insTT GRCh37
NC_000006.10:g.129844244_129844245insTT NCBI36
NG_008678.1:g.603266_603267insTT , LRG_409:g.603266_603267insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7704_7705insTT ENSP00000481744.2:p.Pro2569PhefsTer?
ENST00000618192.5:c.7980_7981insTT ENSP00000480802.2:p.Pro2661PhefsTer?
ENST00000421865.3:c.7716_7717insTT MANE Select ENSP00000400365.2:p.Pro2573PhefsTer?
ENST00000421865.2:c.7716_7717insTT ENSP00000400365.2:p.Pro2573PhefsTer?
ENST00000617695.4:c.7704_7705insTT ENSP00000481744.1:p.Pro2569PhefsTer?
ENST00000618192.4:c.7713_7714insTT ENSP00000480802.1:p.Pro2572PhefsTer?
NM_000426.3:c.7716_7717insTT , LRG_409t1:c.7716_7717insTT NP_000417.2:p.Pro2573PhefsTer16
NM_001079823.1:c.7704_7705insTT NP_001073291.1:p.Pro2569PhefsTer16
XM_005266981.2:c.7980_7981insTT XP_005267038.1:p.Pro2661PhefsTer?
XM_005266982.2:c.7968_7969insTT XP_005267039.1:p.Pro2657PhefsTer?
XM_011535820.1:c.7974_7975insTT XP_011534122.1:p.Pro2659PhefsTer?
XM_005266981.3:c.7980_7981insTT XP_005267038.1:p.Pro2661PhefsTer?
XM_005266982.3:c.7968_7969insTT XP_005267039.1:p.Pro2657PhefsTer?
XM_011535820.2:c.7974_7975insTT XP_011534122.1:p.Pro2659PhefsTer?
XM_017010851.2:c.7986_7987insTT XP_016866340.1:p.Pro2663PhefsTer?
XM_017010852.1:c.6111_6112insTT XP_016866341.1:p.Pro2038PhefsTer?
NM_000426.4:c.7716_7717insTT MANE Select NP_000417.3:p.Pro2573PhefsTer?
NM_001079823.2:c.7704_7705insTT NP_001073291.2:p.Pro2569PhefsTer?