Canonical Allele Identifier: CA3054216236

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40605162_40605163delinsCA , CM000681.2:g.40605162_40605163delinsCA	GRCh38
NC_000019.9:g.41111068_41111069delinsCA , CM000681.1:g.41111068_41111069delinsCA	GRCh37
NC_000019.8:g.45802908_45802909delinsCA	NCBI36
NG_021201.1:g.16997_16998delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.378_379delinsCA MANE Select	ENSP00000380031.5:p.Val127Ile
ENST00000204005.13:c.468_469delinsCA	ENSP00000204005.10:p.Val157Ile
ENST00000308370.11:c.579_580delinsCA	ENSP00000311905.8:p.Val194Ile
ENST00000396819.7:c.378_379delinsCA	ENSP00000380031.4:p.Val127Ile
ENST00000594537.2:c.*314_*315delinsCA	ENSP00000480629.1:n.*314_*315delinsCA
ENST00000598717.5:n.428+5059_428+5060delinsCA
ENST00000599016.5:c.*314_*315delinsCA	ENSP00000482179.1:n.*314_*315delinsCA
NM_001042544.1:c.579_580delinsCA	NP_001036009.1:p.Val194Ile
NM_001042545.1:c.378_379delinsCA	NP_001036010.1:p.Val127Ile
NM_003573.2:c.468_469delinsCA	NP_003564.2:p.Val157Ile
XM_011527376.1:c.579_580delinsCA	XP_011525678.1:p.Val194Ile
XM_011527377.1:c.612_613delinsCA	XP_011525679.1:p.Val205Ile
XM_011527378.1:c.612_613delinsCA	XP_011525680.1:p.Val205Ile
XM_011527379.1:c.378_379delinsCA	XP_011525681.1:p.Val127Ile
XM_011527380.1:c.612_613delinsCA	XP_011525682.1:p.Val205Ile
XM_011527381.1:c.612_613delinsCA	XP_011525683.1:p.Val205Ile
XM_011527382.1:c.612_613delinsCA	XP_011525684.1:p.Val205Ile
XM_011527383.1:c.612_613delinsCA	XP_011525685.1:p.Val205Ile
XM_011527384.1:c.612_613delinsCA	XP_011525686.1:p.Val205Ile
XM_011527385.1:c.612_613delinsCA	XP_011525687.1:p.Val205Ile
XM_011527386.1:c.612_613delinsCA	XP_011525688.1:p.Val205Ile
XM_011527387.1:c.-31_-30delinsCA	XP_011525689.1:n.-31_-30delinsCA
XM_011527376.2:c.579_580delinsCA	XP_011525678.1:p.Val194Ile
XM_011527377.2:c.612_613delinsCA	XP_011525679.1:p.Val205Ile
XM_011527378.2:c.612_613delinsCA	XP_011525680.1:p.Val205Ile
XM_011527380.2:c.612_613delinsCA	XP_011525682.1:p.Val205Ile
XM_011527381.2:c.612_613delinsCA	XP_011525683.1:p.Val205Ile
XM_011527382.2:c.612_613delinsCA	XP_011525684.1:p.Val205Ile
XM_011527383.2:c.612_613delinsCA	XP_011525685.1:p.Val205Ile
XM_011527384.2:c.612_613delinsCA	XP_011525686.1:p.Val205Ile
XM_011527385.2:c.612_613delinsCA	XP_011525687.1:p.Val205Ile
XM_011527386.2:c.612_613delinsCA	XP_011525688.1:p.Val205Ile
XM_017027352.1:c.612_613delinsCA	XP_016882841.1:p.Val205Ile
XM_017027353.1:c.612_613delinsCA	XP_016882842.1:p.Val205Ile
XM_017027354.1:c.612_613delinsCA	XP_016882843.1:p.Val205Ile
NM_001042545.2:c.378_379delinsCA MANE Select	NP_001036010.1:p.Val127Ile