Canonical Allele Identifier: CA2625846244

Gene: POMT2

Linked Data

• gnomAD v4: 14-77279058-G-GGCCTCACTAGGCTGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279058_77279059insGCCTCACTAGGCTGGGC , CM000676.2:g.77279058_77279059insGCCTCACTAGGCTGGGC	GRCh38
NC_000014.8:g.77745401_77745402insGCCTCACTAGGCTGGGC , CM000676.1:g.77745401_77745402insGCCTCACTAGGCTGGGC	GRCh37
NC_000014.7:g.76815154_76815155insGCCTCACTAGGCTGGGC	NCBI36
NG_008897.1:g.46824_46825insGCCCAGCCTAGTGAGGC , LRG_844:g.46824_46825insGCCCAGCCTAGTGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-190_817-189insGCCCAGCCTAGTGAGGC
ENST00000556394.2:c.1433-190_1433-189insGCCCAGCCTAGTGAGGC	ENSP00000451967.2:n.1433-190_1433-189insGCCCAGCCTAGTGAGGC
ENST00000682128.1:c.193-190_193-189insGCCCAGCCTAGTGAGGC	ENSP00000506976.1:n.193-190_193-189insGCCCAGCCTAGTGAGGC
ENST00000682247.1:c.1892-201_1892-200insGCCCAGCCTAGTGAGGC	ENSP00000507213.1:n.1892-201_1892-200insGCCCAGCCTAGTGAGGC
ENST00000682395.1:n.2356-190_2356-189insGCCCAGCCTAGTGAGGC
ENST00000682459.1:n.1595-190_1595-189insGCCCAGCCTAGTGAGGC
ENST00000682467.1:c.1892-551_1892-550insGCCCAGCCTAGTGAGGC	ENSP00000508062.1:n.1892-551_1892-550insGCCCAGCCTAGTGAGGC
ENST00000682615.1:n.246-190_246-189insGCCCAGCCTAGTGAGGC
ENST00000682795.1:c.2039-190_2039-189insGCCCAGCCTAGTGAGGC	ENSP00000507574.1:n.2039-190_2039-189insGCCCAGCCTAGTGAGGC
ENST00000682895.1:n.1608-190_1608-189insGCCCAGCCTAGTGAGGC
ENST00000682955.1:n.1466-190_1466-189insGCCCAGCCTAGTGAGGC
ENST00000683095.1:c.298-190_298-189insGCCCAGCCTAGTGAGGC	ENSP00000508040.1:n.298-190_298-189insGCCCAGCCTAGTGAGGC
ENST00000683188.1:c.2153-190_2153-189insGCCCAGCCTAGTGAGGC
ENST00000683380.1:n.1556-190_1556-189insGCCCAGCCTAGTGAGGC
ENST00000683828.1:c.1601-190_1601-189insGCCCAGCCTAGTGAGGC
ENST00000683907.1:c.157-190_157-189insGCCCAGCCTAGTGAGGC	ENSP00000507754.1:n.157-190_157-189insGCCCAGCCTAGTGAGGC
ENST00000684172.1:c.268-190_268-189insGCCCAGCCTAGTGAGGC	ENSP00000508391.1:n.268-190_268-189insGCCCAGCCTAGTGAGGC
ENST00000684259.1:n.3469_3470insGCCCAGCCTAGTGAGGC
ENST00000684538.1:n.1081_1082insGCCCAGCCTAGTGAGGC
ENST00000684549.1:n.1443-190_1443-189insGCCCAGCCTAGTGAGGC
ENST00000261534.9:c.1892-190_1892-189insGCCCAGCCTAGTGAGGC MANE Select	ENSP00000261534.4:n.1892-190_1892-189insGCCCAGCCTAGTGAGGC
ENST00000261534.8:c.1892-190_1892-189insGCCCAGCCTAGTGAGGC	ENSP00000261534.4:n.1892-190_1892-189insGCCCAGCCTAGTGAGGC
ENST00000452340.7:n.2678_2679insGCCCAGCCTAGTGAGGC
ENST00000554767.5:n.2678-190_2678-189insGCCCAGCCTAGTGAGGC
ENST00000555134.1:n.817-190_817-189insGCCCAGCCTAGTGAGGC
ENST00000555710.1:c.161-98_161-97insGCCCAGCCTAGTGAGGC	ENSP00000451730.1:n.161-98_161-97insGCCCAGCCTAGTGAGGC
ENST00000556171.1:c.484-190_484-189insGCCCAGCCTAGTGAGGC
ENST00000556394.1:c.88-551_88-550insGCCCAGCCTAGTGAGGC
ENST00000556446.1:n.3_4insGCCCAGCCTAGTGAGGC
ENST00000602717.5:c.107-190_107-189insGCCCAGCCTAGTGAGGC	ENSP00000487704.1:n.107-190_107-189insGCCCAGCCTAGTGAGGC
NM_013382.5:c.1892-190_1892-189insGCCCAGCCTAGTGAGGC , LRG_844t1:c.1892-190_1892-189insGCCCAGCCTAGTGAGGC	NP_037514.2:n.1892-190_1892-189insGCCCAGCCTAGTGAGGC
XM_011536675.1:c.2081-190_2081-189insGCCCAGCCTAGTGAGGC	XP_011534977.1:n.2081-190_2081-189insGCCCAGCCTAGTGAGGC
XM_011536676.1:c.1748-190_1748-189insGCCCAGCCTAGTGAGGC	XP_011534978.1:n.1748-190_1748-189insGCCCAGCCTAGTGAGGC
XM_011536677.1:c.1622-190_1622-189insGCCCAGCCTAGTGAGGC	XP_011534979.1:n.1622-190_1622-189insGCCCAGCCTAGTGAGGC
XM_011536678.1:c.*439_*440insGCCCAGCCTAGTGAGGC	XP_011534980.1:n.*439_*440insGCCCAGCCTAGTGAGGC
XM_011536679.1:c.1175-190_1175-189insGCCCAGCCTAGTGAGGC	XP_011534981.1:n.1175-190_1175-189insGCCCAGCCTAGTGAGGC
XR_943416.1:n.2145-190_2145-189insGCCCAGCCTAGTGAGGC
XM_011536675.2:c.2081-190_2081-189insGCCCAGCCTAGTGAGGC	XP_011534977.1:n.2081-190_2081-189insGCCCAGCCTAGTGAGGC
XM_011536676.2:c.1748-190_1748-189insGCCCAGCCTAGTGAGGC	XP_011534978.1:n.1748-190_1748-189insGCCCAGCCTAGTGAGGC
XM_011536677.3:c.1622-190_1622-189insGCCCAGCCTAGTGAGGC	XP_011534979.1:n.1622-190_1622-189insGCCCAGCCTAGTGAGGC
XR_001750279.1:n.2178-190_2178-189insGCCCAGCCTAGTGAGGC
XR_001750282.1:n.2831-190_2831-189insGCCCAGCCTAGTGAGGC
XR_943416.3:n.2143-190_2143-189insGCCCAGCCTAGTGAGGC
NM_013382.6:c.1892-190_1892-189insGCCCAGCCTAGTGAGGC	NP_037514.2:n.1892-190_1892-189insGCCCAGCCTAGTGAGGC
NM_013382.7:c.1892-190_1892-189insGCCCAGCCTAGTGAGGC MANE Select	NP_037514.2:n.1892-190_1892-189insGCCCAGCCTAGTGAGGC