Canonical Allele Identifier: CA2275668163

Gene: ITGB4 GALK1

Linked Data

• dbSNP Id: rs2061542107

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757370_75757373dup , CM000679.2:g.75757370_75757373dup	GRCh38
NC_000017.10:g.73753451_73753454dup , CM000679.1:g.73753451_73753454dup	GRCh37
NC_000017.9:g.71265046_71265049dup	NCBI36
NG_007372.1:g.40936_40939dup
NG_008079.1:g.12828_12831dup
NG_008079.2:g.12828_12831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.5279-46_5279-43dup (ITGB4)	ENSP00000400217.2:n.5279-46_5279-43dup
ENST00000200181.8:c.5330-46_5330-43dup (ITGB4) MANE Select	ENSP00000200181.3:n.5330-46_5330-43dup
ENST00000200181.7:c.5330-46_5330-43dup (ITGB4)	ENSP00000200181.3:n.5330-46_5330-43dup
ENST00000225614.6:c.*22+662_*22+665dup (GALK1)	ENSP00000225614.1:n.*22+662_*22+665dup
ENST00000449880.6:c.5279-46_5279-43dup (ITGB4)	ENSP00000400217.2:n.5279-46_5279-43dup
ENST00000450894.7:c.5120-46_5120-43dup (ITGB4)	ENSP00000405536.3:n.5120-46_5120-43dup
ENST00000578318.1:c.240_243dup (ITGB4)
ENST00000579662.5:c.5120-46_5120-43dup (ITGB4)	ENSP00000463651.1:n.5120-46_5120-43dup
ENST00000582629.1:c.266-256_266-253dup (ITGB4)	ENSP00000463788.1:n.266-256_266-253dup
ENST00000589643.1:n.254+662_254+665dup (GALK1)
NM_000213.3:c.5330-46_5330-43dup (ITGB4)	NP_000204.3:n.5330-46_5330-43dup
NM_001005619.1:c.5279-46_5279-43dup (ITGB4)	NP_001005619.1:n.5279-46_5279-43dup
NM_001005731.1:c.5120-46_5120-43dup (ITGB4)	NP_001005731.1:n.5120-46_5120-43dup
XM_005257309.2:c.5489-46_5489-43dup (ITGB4)	XP_005257366.1:n.5489-46_5489-43dup
XM_005257311.3:c.5489-46_5489-43dup (ITGB4)	XP_005257368.1:n.5489-46_5489-43dup
XM_005257312.2:c.5120-46_5120-43dup (ITGB4)	XP_005257369.1:n.5120-46_5120-43dup
XM_006721866.2:c.5594-46_5594-43dup (ITGB4)	XP_006721929.1:n.5594-46_5594-43dup
XM_006721867.2:c.5435-46_5435-43dup (ITGB4)	XP_006721930.1:n.5435-46_5435-43dup
XM_006721868.2:c.5384-46_5384-43dup (ITGB4)	XP_006721931.1:n.5384-46_5384-43dup
XM_006721870.2:c.5225-46_5225-43dup (ITGB4)	XP_006721933.1:n.5225-46_5225-43dup
XM_011524751.1:c.5285-46_5285-43dup (ITGB4)	XP_011523053.1:n.5285-46_5285-43dup
XM_011524752.1:c.3434-46_3434-43dup (ITGB4)	XP_011523054.1:n.3434-46_3434-43dup
NM_000213.4:c.5330-46_5330-43dup (ITGB4)	NP_000204.3:n.5330-46_5330-43dup
NM_001005731.2:c.5120-46_5120-43dup (ITGB4)	NP_001005731.1:n.5120-46_5120-43dup
NM_001321123.1:c.5120-46_5120-43dup (ITGB4)	NP_001308052.1:n.5120-46_5120-43dup
XM_005257311.4:c.5489-46_5489-43dup (ITGB4)	XP_005257368.1:n.5489-46_5489-43dup
XM_006721866.3:c.5594-46_5594-43dup (ITGB4)	XP_006721929.1:n.5594-46_5594-43dup
XM_006721867.3:c.5435-46_5435-43dup (ITGB4)	XP_006721930.1:n.5435-46_5435-43dup
XM_006721868.3:c.5384-46_5384-43dup (ITGB4)	XP_006721931.1:n.5384-46_5384-43dup
XM_006721870.3:c.5225-46_5225-43dup (ITGB4)	XP_006721933.1:n.5225-46_5225-43dup
XM_011524751.2:c.5285-46_5285-43dup (ITGB4)	XP_011523053.1:n.5285-46_5285-43dup
XM_011524752.2:c.3434-46_3434-43dup (ITGB4)	XP_011523054.1:n.3434-46_3434-43dup
NM_000213.5:c.5330-46_5330-43dup (ITGB4) MANE Select	NP_000204.3:n.5330-46_5330-43dup
NM_001005731.3:c.5120-46_5120-43dup (ITGB4)	NP_001005731.1:n.5120-46_5120-43dup
NM_001321123.2:c.5120-46_5120-43dup (ITGB4)	NP_001308052.1:n.5120-46_5120-43dup
NM_001381985.1:c.*22+662_*22+665dup (GALK1)	NP_001368914.1:n.*22+662_*22+665dup