Canonical Allele Identifier: CA103073382

Gene: BANK1

Linked Data

• dbSNP Id: rs1030209248
• gnomAD v3: 4-101944074-C-CAG
• gnomAD v4: 4-101944074-C-CAG
• MyVariant Identifiers: chr4:g.102865231_102865232insAG (hg19) ; chr4:g.101944074_101944075insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101944086_101944087dup , CM000666.2:g.101944086_101944087dup	GRCh38
NC_000004.11:g.102865243_102865244dup , CM000666.1:g.102865243_102865244dup	GRCh37
NC_000004.10:g.103084266_103084267dup	NCBI36
NG_015824.1:g.158480_158481dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1206+25897_1206+25898dup MANE Select	ENSP00000320509.4:n.1206+25897_1206+25898dup
ENST00000322953.8:c.1206+25897_1206+25898dup	ENSP00000320509.4:n.1206+25897_1206+25898dup
ENST00000428908.5:c.807+25897_807+25898dup	ENSP00000412748.1:n.807+25897_807+25898dup
ENST00000444316.2:c.1116+25897_1116+25898dup	ENSP00000388817.2:n.1116+25897_1116+25898dup
ENST00000504592.5:c.1161+25897_1161+25898dup	ENSP00000421443.1:n.1161+25897_1161+25898dup
ENST00000508653.5:c.807+25897_807+25898dup	ENSP00000422314.1:n.807+25897_807+25898dup
NM_001083907.2:c.1116+25897_1116+25898dup	NP_001077376.2:n.1116+25897_1116+25898dup
NM_001127507.2:c.807+25897_807+25898dup	NP_001120979.2:n.807+25897_807+25898dup
NM_017935.4:c.1206+25897_1206+25898dup	NP_060405.4:n.1206+25897_1206+25898dup
XM_017008337.2:c.1116+25897_1116+25898dup	XP_016863826.1:n.1116+25897_1116+25898dup
NM_017935.5:c.1206+25897_1206+25898dup MANE Select	NP_060405.5:n.1206+25897_1206+25898dup
NM_001083907.3:c.1116+25897_1116+25898dup	NP_001077376.3:n.1116+25897_1116+25898dup
NM_001127507.3:c.807+25897_807+25898dup	NP_001120979.3:n.807+25897_807+25898dup