Canonical Allele Identifier: CA2654437927

Gene: HLCS

Linked Data

• gnomAD v4: 21-36759724-TACCAATAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36759725_36759733del , CM000683.2:g.36759725_36759733del	GRCh38
NC_000021.8:g.38132026_38132034del , CM000683.1:g.38132026_38132034del	GRCh37
NC_000021.7:g.37053896_37053904del	NCBI36
NG_016193.1:g.235503_235511del
NG_016193.2:g.235662_235670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674895.3:c.2230_2236+2del
ENST00000674895.2:c.1789_1795+2del
ENST00000675057.1:c.1789_1795+2del
ENST00000675307.1:c.1789_1795+2del
ENST00000336648.8:c.1789_1795+2del
ENST00000399120.5:c.1789_1795+2del
ENST00000612277.4:c.1789_1795+2del
NM_000411.6:c.1789_1795+2del
NM_001242784.1:c.1789_1795+2del
NM_001242785.1:c.1789_1795+2del
XM_005260953.2:c.2230_2236+2del
XM_005260954.1:c.2230_2236+2del
XM_005260955.2:c.1789_1795+2del
XM_005260956.2:c.1789_1795+2del
XM_006723994.1:c.1789_1795+2del
XM_006723995.1:c.1789_1795+2del
XM_011529538.1:c.1789_1795+2del
XM_011529539.1:c.1789_1795+2del
XM_011529541.1:c.1789_1795+2del
NM_000411.7:c.1789_1795+2del
NM_001242784.2:c.1789_1795+2del
NM_001242785.2:c.1789_1795+2del
NM_001352514.1:c.2230_2236+2del
NM_001352515.1:c.1789_1795+2del
NM_001352516.1:c.1789_1795+2del
NM_001352517.1:c.1789_1795+2del
NM_001352518.1:c.1789_1795+2del
NR_148020.1:n.2272_2278+2del
NR_148021.1:n.2246_2252+2del
XM_011529539.3:c.1789_1795+2del
XM_017028330.1:c.1789_1795+2del
XM_024452065.1:c.1618_1624+2del
XM_024452066.1:c.1618_1624+2del
XR_001754835.1:n.2231_2237+2del
XR_001754836.1:n.2070_2076+2del
XR_001754837.2:n.2070_2076+2del
XR_001754840.1:n.2280_2286+2del
NM_000411.8:c.1789_1795+2del
NM_001242784.3:c.1789_1795+2del
NM_001352514.2:c.2230_2236+2del
NM_001352515.2:c.1789_1795+2del
NM_001352516.2:c.1789_1795+2del
NR_148020.2:n.2089_2095+2del
NM_001352518.2:c.1789_1795+2del