Canonical Allele Identifier: CA996238820

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793796-TGGACTCCTGGGTCTGAGGGAGGAGGGGCTAGGGGCCTGGACTCCTGGGTCTGATGGAGGTGGGTATGGGGACCTGGACTCCTGGGTCTGAGGGAGGAGAATATGGGGGCCC-T
• gnomAD v4: 19-44793796-TGGACTCCTGGGTCTGAGGGAGGAGGGGCTAGGGGCCTGGACTCCTGGGTCTGATGGAGGTGGGTATGGGGACCTGGACTCCTGGGTCTGAGGGAGGAGAATATGGGGGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793820_44793930del , CM000681.2:g.44793820_44793930del	GRCh38
NC_000019.9:g.45297077_45297187del , CM000681.1:g.45297077_45297187del	GRCh37
NC_000019.8:g.49988917_49989027del	NCBI36
NG_054718.1:g.20966_21076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+200_1285-274del MANE Select	ENSP00000494162.1:n.1284+200_1285-274del
ENST00000270279.7:c.1284+200_1285-274del	ENSP00000270279.3:n.1284+200_1285-274del
ENST00000341505.4:c.1146+200_1147-274del	ENSP00000340250.4:n.1146+200_1147-274del
NM_001130852.1:c.1146+200_1147-274del	NP_001124324.1:n.1146+200_1147-274del
NM_012116.3:c.1284+200_1285-274del	NP_036248.3:n.1284+200_1285-274del
XM_005258696.2:c.1284+200_1285-177del	XP_005258753.1:n.1284+200_1285-177del
XM_011526688.1:c.1284+200_1285-274del	XP_011524990.1:n.1284+200_1285-274del
XM_011526689.1:c.1146+200_1147-274del	XP_011524991.1:n.1146+200_1147-274del
XR_935783.1:n.1231+200_1232-274del
NM_012116.4:c.1284+200_1285-274del MANE Select	NP_036248.3:n.1284+200_1285-274del
XM_005258696.3:c.1284+200_1285-177del	XP_005258753.1:n.1284+200_1285-177del
XM_011526688.2:c.1284+200_1285-274del	XP_011524990.1:n.1284+200_1285-274del
XM_011526689.2:c.1146+200_1147-274del	XP_011524991.1:n.1146+200_1147-274del
XR_935783.2:n.1236+200_1237-274del