Canonical Allele Identifier: CA2685364511
Gene: KEL HGNC NCBI

Linked Data

gnomAD v4: 7-142954176-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954176C>T , CM000669.2:g.142954176C>T GRCh38
NC_000007.13:g.142651263C>T , CM000669.1:g.142651263C>T GRCh37
NC_000007.12:g.142361385C>T NCBI36
NG_007492.1:g.13241G>A
NG_007492.2:g.13241G>A
NG_007492.3:g.13241G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355265.7:c.924+8G>A MANE Select ENSP00000347409.2:n.924+8G>A
ENST00000355265.6:c.924+8G>A ENSP00000347409.2:n.924+8G>A
ENST00000479768.6:n.1042+8G>A
NM_000420.2:c.924+8G>A NP_000411.1:n.924+8G>A
XM_005249993.2:c.960+8G>A XP_005250050.1:n.960+8G>A
XM_005249994.3:c.-24+8G>A XP_005250051.1:n.-24+8G>A
NM_000420.3:c.924+8G>A MANE Select NP_000411.1:n.924+8G>A
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