LDH info

Canonical Allele Identifier: CA327328
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53841

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652857dup , CM000669.2:g.117652857dup GRCh38
NC_000007.13:g.117292911dup , CM000669.1:g.117292911dup GRCh37
NC_000007.12:g.117080147dup NCBI36
NG_016465.4:g.192074dup , LRG_663:g.192074dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3889dup , LRG_663t1:c.3889dup NP_000483.3:p.Ser1297PhefsTer5
XM_011515751.1:c.3979dup XP_011514053.1:p.Ser1327PhefsTer5
XM_011515752.1:c.3979dup XP_011514054.1:p.Ser1327PhefsTer5
XM_011515753.1:c.3646dup XP_011514055.1:p.Ser1216PhefsTer5
XM_011515754.1:c.3646dup XP_011514056.1:p.Ser1216PhefsTer5
ENST00000003084.10:c.3889dup ENSP00000003084.6:p.Ser1297PhefsTer5
ENST00000426809.5:n.3799dup ENSP00000389119.1:p.Ser1267PhefsTer5
ENST00000600166.1:n.15dup