×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA913071920
Gene: LAMC2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.183212326_183212346del (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183243191_183243211del , CM000663.2:g.183243191_183243211del
GRCh38
NC_000001.10:g.183212326_183212346del , CM000663.1:g.183212326_183212346del
GRCh37
NC_000001.9:g.181478949_181478969del
NCBI36
NG_007079.2:g.61928_61948del
Transcript Alleles
HGVS
Amino-acid change
ENST00000264144.5:c.3373_3393del
MANE Select
ENSP00000264144.4:p.Gln1125_Lys1131del
ENST00000264144.4:c.3373_3393del
ENSP00000264144.4:p.Gln1125_Lys1131del
NM_005562.2:c.3373_3393del
NP_005553.2:p.Gln1125_Lys1131del
NM_005562.3:c.3373_3393del
MANE Select
NP_005553.2:p.Gln1125_Lys1131del
Search 100 bp 5'
Search 100 bp 3'