Canonical Allele Identifier: CA2148330152

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286791_77286794delinsCATG , CM000676.2:g.77286791_77286794delinsCATG	GRCh38
NC_000014.8:g.77753134_77753137delinsCATG , CM000676.1:g.77753134_77753137delinsCATG	GRCh37
NC_000014.7:g.76822887_76822890delinsCATG	NCBI36
NG_008897.1:g.39089_39092delinsCATG , LRG_844:g.39089_39092delinsCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.823_826delinsCATG	ENSP00000451967.2:p.His275=
ENST00000682247.1:c.1282_1285delinsCATG	ENSP00000507213.1:p.His428=
ENST00000682382.1:c.854_857delinsCATG
ENST00000682395.1:n.1460_1463delinsCATG
ENST00000682459.1:n.985_988delinsCATG
ENST00000682467.1:c.1282_1285delinsCATG	ENSP00000508062.1:p.His428=
ENST00000682706.1:n.59_62delinsCATG
ENST00000682795.1:c.1282_1285delinsCATG	ENSP00000507574.1:p.His428=
ENST00000682895.1:n.998_1001delinsCATG
ENST00000682955.1:n.570_573delinsCATG
ENST00000683188.1:c.1257_1260delinsCATG
ENST00000683328.1:c.275_278delinsCATG	ENSP00000508096.1:n.275_278delinsCATG
ENST00000683380.1:n.946_949delinsCATG
ENST00000683828.1:c.991_994delinsCATG
ENST00000684259.1:n.1133_1136delinsCATG
ENST00000684444.1:c.29_32delinsCATG
ENST00000684549.1:n.833_836delinsCATG
ENST00000261534.9:c.1282_1285delinsCATG MANE Select	ENSP00000261534.4:p.His428=
ENST00000261534.8:c.1282_1285delinsCATG	ENSP00000261534.4:p.His428=
ENST00000452340.7:n.1305_1308delinsCATG
ENST00000553880.5:n.153_156delinsCATG
ENST00000554767.5:n.2068_2071delinsCATG
ENST00000554884.5:n.274_277delinsCATG
ENST00000556404.1:n.416_419delinsCATG
ENST00000556851.1:n.318_321delinsCATG
ENST00000557675.5:n.372_375delinsCATG
NM_013382.5:c.1282_1285delinsCATG , LRG_844t1:c.1282_1285delinsCATG	NP_037514.2:p.His428=
XM_011536675.1:c.1282_1285delinsCATG	XP_011534977.1:p.His428=
XM_011536676.1:c.949_952delinsCATG	XP_011534978.1:p.His317=
XM_011536677.1:c.823_826delinsCATG	XP_011534979.1:p.His275=
XM_011536678.1:c.1282_1285delinsCATG	XP_011534980.1:p.His428=
XM_011536679.1:c.376_379delinsCATG	XP_011534981.1:p.His126=
XR_943416.1:n.1485_1488delinsCATG
XM_011536675.2:c.1282_1285delinsCATG	XP_011534977.1:p.His428=
XM_011536676.2:c.949_952delinsCATG	XP_011534978.1:p.His317=
XM_011536677.3:c.823_826delinsCATG	XP_011534979.1:p.His275=
XR_001750279.1:n.1482_1485delinsCATG
XR_001750282.1:n.1935_1938delinsCATG
XR_943416.3:n.1483_1486delinsCATG
NM_013382.6:c.1282_1285delinsCATG	NP_037514.2:p.His428=
NM_013382.7:c.1282_1285delinsCATG MANE Select	NP_037514.2:p.His428=