Canonical Allele Identifier: CA2499225888

Gene: HLCS

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36756737_36756811del , CM000683.2:g.36756737_36756811del	GRCh38
NC_000021.8:g.38129038_38129112del , CM000683.1:g.38129038_38129112del	GRCh37
NC_000021.7:g.37050908_37050982del	NCBI36
NG_016193.1:g.238425_238499del
NG_016193.2:g.238584_238658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.2237-56_2255del
ENST00000674895.2:c.1796-56_1814del
ENST00000675057.1:c.*150_*224del	ENSP00000501832.1:n.*150_*224del
ENST00000675307.1:c.1796-56_1814del
ENST00000336648.8:c.1796-56_1814del
ENST00000399120.5:c.1796-56_1814del
ENST00000612277.4:c.1796-56_1814del
NM_000411.6:c.1796-56_1814del
NM_001242784.1:c.1796-56_1814del
NM_001242785.1:c.1796-56_1814del
XM_005260953.2:c.2237-56_2255del
XM_005260955.2:c.1796-56_1814del
XM_005260956.2:c.1796-56_1814del
XM_006723994.1:c.1796-56_1814del
XM_006723995.1:c.1796-56_1814del
XM_011529538.1:c.1796-56_1814del
XM_011529539.1:c.1796-56_1814del
XM_011529541.1:c.1796-56_1814del
NM_000411.7:c.1796-56_1814del
NM_001242784.2:c.1796-56_1814del
NM_001242785.2:c.1796-56_1814del
NM_001352514.1:c.2237-56_2255del
NM_001352515.1:c.1796-56_1814del
NM_001352516.1:c.1796-56_1814del
NM_001352517.1:c.1796-56_1814del
NM_001352518.1:c.1796-56_1814del
NR_148020.1:n.2448_2522del
NR_148021.1:n.2422_2496del
XM_011529539.3:c.1796-56_1814del
XM_017028330.1:c.1796-56_1814del
XM_024452065.1:c.1625-56_1643del
XM_024452066.1:c.1625-56_1643del
XR_001754835.1:n.2407_2481del
XR_001754836.1:n.2077-56_2095del
XR_001754840.1:n.2287-56_2305del
NM_000411.8:c.1796-56_1814del
NM_001242784.3:c.1796-56_1814del
NM_001352514.2:c.2237-56_2255del
NM_001352515.2:c.1796-56_1814del
NM_001352516.2:c.1796-56_1814del
NR_148020.2:n.2265_2339del
NM_001352518.2:c.1796-56_1814del