Canonical Allele Identifier: CA2596115175

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2142849776
• gnomAD v3: 11-47332468-GAA-G
• gnomAD v4: 11-47332468-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332470_47332471del , CM000673.2:g.47332470_47332471del	GRCh38
NC_000011.9:g.47354021_47354022del , CM000673.1:g.47354021_47354022del	GRCh37
NC_000011.8:g.47310597_47310598del	NCBI36
NG_007667.1:g.25233_25234del , LRG_386:g.25233_25234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3627+96_3627+97del MANE Select	ENSP00000442795.1:n.3627+96_3627+97del
ENST00000256993.8:c.3627+96_3627+97del	ENSP00000256993.5:n.3627+96_3627+97del
ENST00000399249.6:c.3627+96_3627+97del	ENSP00000382193.2:n.3627+96_3627+97del
ENST00000545968.5:c.3627+96_3627+97del	ENSP00000442795.1:n.3627+96_3627+97del
NM_000256.3:c.3627+96_3627+97del , LRG_386t1:c.3627+96_3627+97del MANE Select	NP_000247.2:n.3627+96_3627+97del
XM_011520117.1:c.3609+96_3609+97del	XP_011518419.1:n.3609+96_3609+97del
XM_011520118.1:c.3546+96_3546+97del	XP_011518420.1:n.3546+96_3546+97del