Canonical Allele Identifier: CA2580095161

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75755716_75755717del , CM000679.2:g.75755716_75755717del	GRCh38
NC_000017.10:g.73751797_73751798del , CM000679.1:g.73751797_73751798del	GRCh37
NC_000017.9:g.71263392_71263393del	NCBI36
NG_007372.1:g.39282_39283del
NG_008079.2:g.14483_14484del

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.4574_4575del (ITGB4) MANE Select	NP_000204.3:p.Ala1525GlyfsTer?
ENST00000200181.8:c.4574_4575del (ITGB4) MANE Select	ENSP00000200181.3:p.Ala1525GlyfsTer?
NM_000213.3:c.4574_4575del (ITGB4)	NP_000204.3:p.Ala1525GlyfsTer?
NM_000213.4:c.4574_4575del (ITGB4)	NP_000204.3:p.Ala1525GlyfsTer?
NM_001005619.1:c.4523_4524del (ITGB4)	NP_001005619.1:p.Ala1508GlyfsTer?
NM_001005731.1:c.4364_4365del (ITGB4)	NP_001005731.1:p.Ala1455GlyfsTer?
NM_001005731.2:c.4364_4365del (ITGB4)	NP_001005731.1:p.Ala1455GlyfsTer?
NM_001005731.3:c.4364_4365del (ITGB4)	NP_001005731.1:p.Ala1455GlyfsTer?
NM_001321123.1:c.4364_4365del (ITGB4)	NP_001308052.1:p.Ala1455GlyfsTer?
NM_001321123.2:c.4364_4365del (ITGB4)	NP_001308052.1:p.Ala1455GlyfsTer?
NM_001381985.1:c.*22+2317_*22+2318del (GALK1)	NP_001368914.1:n.*22+2317_*22+2318del
ENST00000200181.7:c.4574_4575del (ITGB4)	ENSP00000200181.3:p.Ala1525GlyfsTer?
ENST00000225614.6:c.*22+2317_*22+2318del (GALK1)	ENSP00000225614.1:n.*22+2317_*22+2318del
ENST00000449880.6:c.4523_4524del (ITGB4)	ENSP00000400217.2:p.Ala1508GlyfsTer?
ENST00000449880.7:c.4523_4524del (ITGB4)	ENSP00000400217.2:p.Ala1508GlyfsTer?
ENST00000450894.7:c.4364_4365del (ITGB4)	ENSP00000405536.3:p.Ala1455GlyfsTer?
ENST00000579211.1:n.349_350del (ITGB4)
ENST00000579662.5:c.4364_4365del (ITGB4)	ENSP00000463651.1:p.Ala1455GlyfsTer?
ENST00000582629.1:c.266-1910_266-1909del (ITGB4)	ENSP00000463788.1:n.266-1910_266-1909del
ENST00000583327.2:n.607_608del (ITGB4)
ENST00000584939.1:c.199-713_199-712del (ITGB4)
ENST00000589643.1:n.254+2317_254+2318del (GALK1)
XM_005257309.2:c.4733_4734del (ITGB4)	XP_005257366.1:p.Ala1578GlyfsTer?
XM_005257311.3:c.4733_4734del (ITGB4)	XP_005257368.1:p.Ala1578GlyfsTer?
XM_005257311.4:c.4733_4734del (ITGB4)	XP_005257368.1:p.Ala1578GlyfsTer?
XM_005257312.2:c.4364_4365del (ITGB4)	XP_005257369.1:p.Ala1455GlyfsTer?
XM_006721866.2:c.4838_4839del (ITGB4)	XP_006721929.1:p.Ala1613GlyfsTer?
XM_006721866.3:c.4838_4839del (ITGB4)	XP_006721929.1:p.Ala1613GlyfsTer?
XM_006721867.2:c.4679_4680del (ITGB4)	XP_006721930.1:p.Ala1560GlyfsTer?
XM_006721867.3:c.4679_4680del (ITGB4)	XP_006721930.1:p.Ala1560GlyfsTer?
XM_006721868.2:c.4628_4629del (ITGB4)	XP_006721931.1:p.Ala1543GlyfsTer?
XM_006721868.3:c.4628_4629del (ITGB4)	XP_006721931.1:p.Ala1543GlyfsTer?
XM_006721870.2:c.4469_4470del (ITGB4)	XP_006721933.1:p.Ala1490GlyfsTer?
XM_006721870.3:c.4469_4470del (ITGB4)	XP_006721933.1:p.Ala1490GlyfsTer?
XM_011524751.1:c.4664-713_4664-712del (ITGB4)	XP_011523053.1:n.4664-713_4664-712del
XM_011524751.2:c.4664-713_4664-712del (ITGB4)	XP_011523053.1:n.4664-713_4664-712del
XM_011524752.1:c.2678_2679del (ITGB4)	XP_011523054.1:p.Ala893GlyfsTer?
XM_011524752.2:c.2678_2679del (ITGB4)	XP_011523054.1:p.Ala893GlyfsTer?