Canonical Allele Identifier: CA280130

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11890994_11890995insGGG , CM000674.2:g.11890994_11890995insGGG	GRCh38
NC_000012.11:g.12043928_12043929insGGG , CM000674.1:g.12043928_12043929insGGG	GRCh37
NC_000012.10:g.11935195_11935196insGGG	NCBI36
NG_011443.1:g.246141_246142insGGG , LRG_609:g.246141_246142insGGG

Transcript Alleles

HGVS	Amino-acid Change
NM_001987.5:c.1307_1308insGGG MANE Select	NP_001978.1:p.His436delinsGlnGly
ENST00000396373.9:c.1307_1308insGGG MANE Select	ENSP00000379658.3:p.His436delinsGlnGly
NM_001987.4:c.1307_1308insGGG , LRG_609t1:c.1307_1308insGGG	NP_001978.1:p.His436delinsGlnGly
ENST00000266427.3:c.91-547_91-546insGGG
ENST00000396373.8:c.1307_1308insGGG	ENSP00000379658.3:p.His436delinsGlnGly
XM_011520607.1:c.1304_1305insGGG	XP_011518909.1:p.His435delinsGlnGly
XM_011520607.2:c.1304_1305insGGG	XP_011518909.1:p.His435delinsGlnGly
XM_011520608.1:c.1280_1281insGGG	XP_011518910.1:p.His427delinsGlnGly
XM_011520608.2:c.1280_1281insGGG	XP_011518910.1:p.His427delinsGlnGly
XM_011520609.1:c.1043_1044insGGG	XP_011518911.1:p.His348delinsGlnGly
XM_011520609.2:c.1043_1044insGGG	XP_011518911.1:p.His348delinsGlnGly
XM_011520610.1:c.1043_1044insGGG	XP_011518912.1:p.His348delinsGlnGly
XM_011520611.1:c.1043_1044insGGG	XP_011518913.1:p.His348delinsGlnGly
XM_011520611.2:c.1043_1044insGGG	XP_011518913.1:p.His348delinsGlnGly
XM_011520612.1:c.686_687insGGG	XP_011518914.1:p.His229delinsGlnGly
XM_011520612.2:c.686_687insGGG	XP_011518914.1:p.His229delinsGlnGly
XM_017018990.1:c.1172_1173insGGG	XP_016874479.1:p.His391delinsGlnGly
XM_017018991.1:c.1043_1044insGGG	XP_016874480.1:p.His348delinsGlnGly