Canonical Allele Identifier: CA645517522

Gene: SLC39A8

Linked Data

• COSMIC: COSM392455

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102305081_102305093del , CM000666.2:g.102305081_102305093del	GRCh38
NC_000004.11:g.103226238_103226250del , CM000666.1:g.103226238_103226250del	GRCh37
NC_000004.10:g.103445261_103445273del	NCBI36
NG_047177.1:g.45407_45419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.572_584del	ENSP00000394548.3:p.Lys191MetfsTer22
ENST00000682227.1:c.572_584del	ENSP00000508363.1:p.Lys191MetfsTer22
ENST00000682243.1:c.*693_*705del	ENSP00000507952.1:n.*693_*705del
ENST00000682549.1:c.572_584del	ENSP00000507483.1:p.Lys191MetfsTer22
ENST00000682932.1:c.572_584del	ENSP00000507414.1:p.Lys191MetfsTer22
ENST00000683173.1:c.*693_*705del	ENSP00000508032.1:n.*693_*705del
ENST00000683221.1:c.572_584del	ENSP00000508093.1:p.Lys191MetfsTer22
ENST00000683401.1:n.505_517del
ENST00000683412.1:c.572_584del	ENSP00000507538.1:p.Lys191MetfsTer22
ENST00000683462.1:c.572_584del	ENSP00000507170.1:p.Lys191MetfsTer22
ENST00000683634.1:c.*693_*705del	ENSP00000507087.1:n.*693_*705del
ENST00000683706.1:c.220-19119_220-19107del	ENSP00000506745.1:n.220-19119_220-19107del
ENST00000683916.1:c.572_584del	ENSP00000508106.1:p.Lys191MetfsTer22
ENST00000684289.1:c.*247_*259del	ENSP00000506748.1:n.*247_*259del
ENST00000684386.1:c.572_584del	ENSP00000507611.1:p.Lys191MetfsTer22
ENST00000356736.5:c.572_584del MANE Select	ENSP00000349174.4:p.Lys191MetfsTer22
ENST00000356736.4:c.572_584del	ENSP00000349174.4:p.Lys191MetfsTer22
ENST00000394833.6:c.572_584del	ENSP00000378310.2:p.Lys191MetfsTer22
ENST00000424970.6:c.572_584del	ENSP00000394548.2:p.Lys191MetfsTer22
ENST00000510255.5:n.500_512del
ENST00000512657.5:n.491_503del
ENST00000514000.5:n.276_288del
NM_001135146.1:c.572_584del	NP_001128618.1:p.Lys191MetfsTer22
NM_001135147.1:c.572_584del	NP_001128619.1:p.Lys191MetfsTer22
NM_001135148.1:c.371_383del	NP_001128620.1:p.Lys124MetfsTer22
NM_022154.5:c.572_584del	NP_071437.3:p.Lys191MetfsTer22
XM_005263177.1:c.572_584del	XP_005263234.1:p.Lys191MetfsTer22
XM_011532181.1:c.572_584del	XP_011530483.1:p.Lys191MetfsTer22
XM_011532182.1:c.-71_-59del	XP_011530484.1:n.-71_-59del
XM_005263177.2:c.572_584del	XP_005263234.1:p.Lys191MetfsTer22
XM_017008541.1:c.371_383del	XP_016864030.1:p.Lys124MetfsTer22
XM_024454183.1:c.572_584del	XP_024309951.1:p.Lys191MetfsTer22
XM_024454184.1:c.572_584del	XP_024309952.1:p.Lys191MetfsTer22
NM_001135146.2:c.572_584del MANE Select	NP_001128618.1:p.Lys191MetfsTer22
NM_001135148.2:c.371_383del	NP_001128620.1:p.Lys124MetfsTer22