Canonical Allele Identifier: CA631682899

Gene: INSR

Linked Data

• dbSNP Id: rs1327495375
• gnomAD v2: 19-7150282-T-TTTTA
• gnomAD v3: 19-7150271-T-TTTTA
• gnomAD v4: 19-7150271-T-TTTTA
• MyVariant Identifiers: chr19:g.7150282_7150283insTTTA (hg19) ; chr19:g.7150271_7150272insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7150272_7150275dup , CM000681.2:g.7150272_7150275dup	GRCh38
NC_000019.9:g.7150283_7150286dup , CM000681.1:g.7150283_7150286dup	GRCh37
NC_000019.8:g.7101283_7101286dup	NCBI36
NG_008852.2:g.148726_148729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2267+222_2267+225dup MANE Select	ENSP00000303830.4:n.2267+222_2267+225dup
ENST00000302850.9:c.2267+222_2267+225dup	ENSP00000303830.4:n.2267+222_2267+225dup
ENST00000341500.9:c.2231+2451_2231+2454dup	ENSP00000342838.4:n.2231+2451_2231+2454dup
NM_000208.2:c.2267+222_2267+225dup	NP_000199.2:n.2267+222_2267+225dup
NM_000208.3:c.2267+222_2267+225dup	NP_000199.2:n.2267+222_2267+225dup
NM_001079817.1:c.2231+2451_2231+2454dup	NP_001073285.1:n.2231+2451_2231+2454dup
NM_001079817.2:c.2231+2451_2231+2454dup	NP_001073285.1:n.2231+2451_2231+2454dup
XM_011527988.1:c.2345+222_2345+225dup	XP_011526290.1:n.2345+222_2345+225dup
XM_011527989.1:c.2309+2451_2309+2454dup	XP_011526291.1:n.2309+2451_2309+2454dup
XM_011527988.2:c.2267+222_2267+225dup	XP_011526290.2:n.2267+222_2267+225dup
XM_011527989.3:c.2231+2451_2231+2454dup	XP_011526291.2:n.2231+2451_2231+2454dup
NM_000208.4:c.2267+222_2267+225dup MANE Select	NP_000199.2:n.2267+222_2267+225dup
NM_001079817.3:c.2231+2451_2231+2454dup	NP_001073285.1:n.2231+2451_2231+2454dup