Canonical Allele Identifier: CA3039197495

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36930221_36930309del , CM000683.2:g.36930221_36930309del	GRCh38
NC_000021.8:g.38302521_38302609del , CM000683.1:g.38302521_38302609del	GRCh37
NC_000021.7:g.37224391_37224479del	NCBI36
NG_016193.1:g.64936_65024del
NG_016193.2:g.65094_65182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.1570_1620+38del
ENST00000674895.2:c.1129_1179+38del
ENST00000675057.1:c.1129_1179+38del
ENST00000675307.1:c.1129_1179+38del
ENST00000336648.8:c.1129_1179+38del
ENST00000399120.5:c.1129_1179+38del
ENST00000482273.1:n.117_167+38del
ENST00000612277.4:c.1129_1179+38del
NM_000411.6:c.1129_1179+38del
NM_001242784.1:c.1129_1179+38del
NM_001242785.1:c.1129_1179+38del
XM_005260953.2:c.1570_1620+38del
XM_005260954.1:c.1570_1620+38del
XM_005260955.2:c.1129_1179+38del
XM_005260956.2:c.1129_1179+38del
XM_006723994.1:c.1129_1179+38del
XM_006723995.1:c.1129_1179+38del
XM_011529538.1:c.1129_1179+38del
XM_011529539.1:c.1129_1179+38del
XM_011529540.1:c.1570_1620+38del
XM_011529541.1:c.1129_1179+38del
XM_011529542.1:c.1570_1620+38del
NM_000411.7:c.1129_1179+38del
NM_001242784.2:c.1129_1179+38del
NM_001242785.2:c.1129_1179+38del
NM_001352514.1:c.1570_1620+38del
NM_001352515.1:c.1129_1179+38del
NM_001352516.1:c.1129_1179+38del
NM_001352517.1:c.1129_1179+38del
NM_001352518.1:c.1129_1179+38del
NR_148020.1:n.1612_1662+38del
NR_148021.1:n.1586_1636+38del
XM_011529539.3:c.1129_1179+38del
XM_011529540.2:c.1570_1620+38del
XM_017028330.1:c.1129_1179+38del
XM_024452065.1:c.958_1008+38del
XM_024452066.1:c.958_1008+38del
XR_001754835.1:n.1571_1621+38del
XR_001754836.1:n.1571_1621+38del
XR_001754837.2:n.1571_1621+38del
XR_001754840.1:n.1571_1621+38del
NM_000411.8:c.1129_1179+38del
NM_001242784.3:c.1129_1179+38del
NM_001352514.2:c.1570_1620+38del
NM_001352515.2:c.1129_1179+38del
NM_001352516.2:c.1129_1179+38del
NR_148020.2:n.1429_1479+38del
NM_001352518.2:c.1129_1179+38del