Canonical Allele Identifier: CA2739268396

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757422_75757423delinsCA , CM000679.2:g.75757422_75757423delinsCA	GRCh38
NC_000017.10:g.73753503_73753504delinsCA , CM000679.1:g.73753503_73753504delinsCA	GRCh37
NC_000017.9:g.71265098_71265099delinsCA	NCBI36
NG_007372.1:g.40988_40989delinsCA
NG_008079.1:g.12777_12778delinsTG
NG_008079.2:g.12777_12778delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.5285_5286delinsCA (ITGB4)	ENSP00000400217.2:p.Leu1762Pro
ENST00000200181.8:c.5336_5337delinsCA (ITGB4) MANE Select	ENSP00000200181.3:p.Leu1779Pro
ENST00000200181.7:c.5336_5337delinsCA (ITGB4)	ENSP00000200181.3:p.Leu1779Pro
ENST00000225614.6:c.*22+611_*22+612delinsTG (GALK1)	ENSP00000225614.1:n.*22+611_*22+612delinsTG
ENST00000449880.6:c.5285_5286delinsCA (ITGB4)	ENSP00000400217.2:p.Leu1762Pro
ENST00000450894.7:c.5126_5127delinsCA (ITGB4)	ENSP00000405536.3:p.Leu1709Pro
ENST00000578318.1:c.292_293delinsCA (ITGB4)
ENST00000579662.5:c.5126_5127delinsCA (ITGB4)	ENSP00000463651.1:p.Leu1709Pro
ENST00000582629.1:c.266-204_266-203delinsCA (ITGB4)	ENSP00000463788.1:n.266-204_266-203delinsCA
ENST00000589643.1:n.254+611_254+612delinsTG (GALK1)
NM_000213.3:c.5336_5337delinsCA (ITGB4)	NP_000204.3:p.Leu1779Pro
NM_001005619.1:c.5285_5286delinsCA (ITGB4)	NP_001005619.1:p.Leu1762Pro
NM_001005731.1:c.5126_5127delinsCA (ITGB4)	NP_001005731.1:p.Leu1709Pro
XM_005257309.2:c.5495_5496delinsCA (ITGB4)	XP_005257366.1:p.Leu1832Pro
XM_005257311.3:c.5495_5496delinsCA (ITGB4)	XP_005257368.1:p.Leu1832Pro
XM_005257312.2:c.5126_5127delinsCA (ITGB4)	XP_005257369.1:p.Leu1709Pro
XM_006721866.2:c.5600_5601delinsCA (ITGB4)	XP_006721929.1:p.Leu1867Pro
XM_006721867.2:c.5441_5442delinsCA (ITGB4)	XP_006721930.1:p.Leu1814Pro
XM_006721868.2:c.5390_5391delinsCA (ITGB4)	XP_006721931.1:p.Leu1797Pro
XM_006721870.2:c.5231_5232delinsCA (ITGB4)	XP_006721933.1:p.Leu1744Pro
XM_011524751.1:c.5291_5292delinsCA (ITGB4)	XP_011523053.1:p.Leu1764Pro
XM_011524752.1:c.3440_3441delinsCA (ITGB4)	XP_011523054.1:p.Leu1147Pro
NM_000213.4:c.5336_5337delinsCA (ITGB4)	NP_000204.3:p.Leu1779Pro
NM_001005731.2:c.5126_5127delinsCA (ITGB4)	NP_001005731.1:p.Leu1709Pro
NM_001321123.1:c.5126_5127delinsCA (ITGB4)	NP_001308052.1:p.Leu1709Pro
XM_005257311.4:c.5495_5496delinsCA (ITGB4)	XP_005257368.1:p.Leu1832Pro
XM_006721866.3:c.5600_5601delinsCA (ITGB4)	XP_006721929.1:p.Leu1867Pro
XM_006721867.3:c.5441_5442delinsCA (ITGB4)	XP_006721930.1:p.Leu1814Pro
XM_006721868.3:c.5390_5391delinsCA (ITGB4)	XP_006721931.1:p.Leu1797Pro
XM_006721870.3:c.5231_5232delinsCA (ITGB4)	XP_006721933.1:p.Leu1744Pro
XM_011524751.2:c.5291_5292delinsCA (ITGB4)	XP_011523053.1:p.Leu1764Pro
XM_011524752.2:c.3440_3441delinsCA (ITGB4)	XP_011523054.1:p.Leu1147Pro
NM_000213.5:c.5336_5337delinsCA (ITGB4) MANE Select	NP_000204.3:p.Leu1779Pro
NM_001005731.3:c.5126_5127delinsCA (ITGB4)	NP_001005731.1:p.Leu1709Pro
NM_001321123.2:c.5126_5127delinsCA (ITGB4)	NP_001308052.1:p.Leu1709Pro
NM_001381985.1:c.*22+611_*22+612delinsTG (GALK1)	NP_001368914.1:n.*22+611_*22+612delinsTG