Canonical Allele Identifier: CA2639896717

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75836163-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836163_75836164insCG , CM000679.2:g.75836163_75836164insCG	GRCh38
NC_000017.10:g.73832244_73832245insCG , CM000679.1:g.73832244_73832245insCG	GRCh37
NC_000017.9:g.71343839_71343840insCG	NCBI36
NG_007266.1:g.13554_13555insCG , LRG_122:g.13554_13555insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.381+36_381+37insCG	ENSP00000514405.1:n.381+36_381+37insCG
ENST00000699511.1:c.623+36_623+37insCG
ENST00000207549.9:c.1446+36_1446+37insCG MANE Select	ENSP00000207549.3:n.1446+36_1446+37insCG
ENST00000207549.8:c.1446+36_1446+37insCG	ENSP00000207549.3:n.1446+36_1446+37insCG
ENST00000412096.6:c.1446+36_1446+37insCG	ENSP00000388093.1:n.1446+36_1446+37insCG
ENST00000586147.1:c.174+36_174+37insCG	ENSP00000466543.1:n.174+36_174+37insCG
ENST00000587105.1:c.565+36_565+37insCG
ENST00000591563.5:n.1716+36_1716+37insCG
NM_199242.2:c.1446+36_1446+37insCG , LRG_122t1:c.1446+36_1446+37insCG	NP_954712.1:n.1446+36_1446+37insCG
XM_011524504.1:c.1446+36_1446+37insCG	XP_011522806.1:n.1446+36_1446+37insCG
XM_011524505.1:c.1446+36_1446+37insCG	XP_011522807.1:n.1446+36_1446+37insCG
XM_011524506.1:c.1443+36_1443+37insCG	XP_011522808.1:n.1443+36_1443+37insCG
XM_011524507.1:c.837+36_837+37insCG	XP_011522809.1:n.837+36_837+37insCG
XM_011524508.1:c.837+36_837+37insCG	XP_011522810.1:n.837+36_837+37insCG
XM_011524504.2:c.1446+36_1446+37insCG	XP_011522806.1:n.1446+36_1446+37insCG
XM_011524507.2:c.837+36_837+37insCG	XP_011522809.1:n.837+36_837+37insCG
XM_024450640.1:c.837+36_837+37insCG	XP_024306408.1:n.837+36_837+37insCG
NM_199242.3:c.1446+36_1446+37insCG MANE Select	NP_954712.1:n.1446+36_1446+37insCG