Canonical Allele Identifier: CA16619335

Gene: MYBPC3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333623_47333624insTT , CM000673.2:g.47333623_47333624insTT	GRCh38
NC_000011.9:g.47355174_47355175insTT , CM000673.1:g.47355174_47355175insTT	GRCh37
NC_000011.8:g.47311750_47311751insTT	NCBI36
NG_007667.1:g.24080_24081insAA , LRG_386:g.24080_24081insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3124_3125insAA MANE Select	ENSP00000442795.1:p.Thr1042LysfsTer5
ENST00000256993.8:c.3124_3125insAA	ENSP00000256993.5:p.Thr1042LysfsTer5
ENST00000399249.6:c.3124_3125insAA	ENSP00000382193.2:p.Thr1042LysfsTer5
ENST00000545968.5:c.3124_3125insAA	ENSP00000442795.1:p.Thr1042LysfsTer5
NM_000256.3:c.3124_3125insAA , LRG_386t1:c.3124_3125insAA MANE Select	NP_000247.2:p.Thr1042LysfsTer5
XM_011520117.1:c.3106_3107insAA	XP_011518419.1:p.Thr1036LysfsTer5
XM_011520118.1:c.3043_3044insAA	XP_011518420.1:p.Thr1015LysfsTer5